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| Diseases | Gene symbol |
|---|
| 11-beta-hydroxylase deficiency | CYP11B1 |
| 17 alpha-hydroxylase deficiency | CYP17A1, CYP11B2 |
| 2,4-Dienoyl-CoA reductase deficiency | NADK2 |
| 2-hydroxyglutaric aciduria | L2HGDH, SLC25A1 |
| 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase | HSD17B10 |
| 21-hydroxylase deficiency (CAH) | CYP21A2, AR |
| 22q11.2 deletion syndrome | TBX1 |
| 3 beta-hydroxysteroid dehydrogenase deficiency (3beta-HSD) | AMH |
| 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL |
| 3-Hydroxyacyl-CoA dehydrogenase deficiency | HADH |
| 3-Methylcrotonylglycinuria | MCCC1, MCCC2 |
| 3-Methylglutaconic aciduria | TAZ, OPA3, HTRA2, AUH, SERAC1, DNAJC19, CLPB, TIMM50 |
| 3-Phosphoglycerate dehydrogenase | PHGDH |
| 3beta-hydroxysteroid dehydrogenase deficiency | AMH |
| 3C syndrome | WASHC5, CCDC22 |
| 3M syndrome | OBSL1, CUL7, CCDC8 |
| 3MC syndrome | COLEC11, MASP1 |
| 45, X/46,X, psu dic(Y)(pter-->q11::q11-->pter) | SRY |
| 46 XY DSD without adrenal insufficiency | NR5A1 |
| 46 XY gonadal dysgenesis | DHH |
| 46, XX disorder of sex differentiation | CYP19A1 |
| 46, XX disorders of sex development | POLG |
| 46, XX ovarian insufficiency | NR5A1 |
| 46, XX sex reversal | NR5A1 |
| 46, XY and ovarian insufficiency | NR5A1 |
| 46, XY disorder of sex development | NR5A1, NR5A2, GATA4 |
| 46, XY disorder of sex development without adrenal insufficiency | NR5A1 |
| 46, XY is gonadal dysgenesis | NR5A1 |
| 46, XY males without adrenal insufficiency | NR5A1 |
| 46, XY partial gonadal dysgenesis | NR5A1 |
| 46, XY patients with disorders of sex development | NR5A1 |
| 46, XY sex reversal | SRY, NR5A1 |
| 46,XX disorder of sex development | SRY |
| 46,XX gonadal dysgenesis | FSHR, MCM9, PSMC3IP |
| 46,XX ovotesticular Disorders of sex development | SOX3 |
| 46,XX ovotesticular DSD | SRY |
| 46,XX primary ovarian insufficiency | NR5A1 |
| 46,XX ovarian insufficiency | NR5A1 |
| 46,XY disorder of sex development | AR, SRY, HSD17B3, LHCGR |
| 46,XY Disorders in sex development | WT1 |
| 46,XY Disorders of sex development | WT1, SRD5A2, HSD17B3, HSD17B1, NR5A1 |
| 46,XY Disorders of Sex Development (DSD) | NR5A2 |
| 46,XY disorders of sex differentiation | NR5A1 |
| 46,XY DSD | GATA4, MAP3K1 |
| 46,XY female, gonadal dysgenesis | TSPYL1 |
| 46,XY gonadal dysgenesis | CBX2, ZFPM2, AKR1C2, DHH, MAP3K1, AKR1C4, NR5A1 |
| 46,XY gonadal dysgenesis and impaired spermatogenesis | PPP2R3C |
| 46,XY is gonadal dysgenesis | NR5A1 |
| 46,XY males without adrenal insufficiency | NR5A1 |
| 46,XY patients with disorders of sex development | CYP11A1, CYP11A |
| 46,XY pure gonadal dysgenesis | SRY |
| 46,XY sex reversal | SRY |
| 46,XY sex-reversal phenotype without dysgenesis | NR5A1 |
| 4p deletion syndrome | FGFRL1, CPLX1, NSD2, CTBP1, LETM1 |
| 5-Oxoprolinase deficiency | OPLAH |
| 5alpha reductase 2 deficiency | SRD5A2 |
| 5alpha-reductase deficiency | SRD5A2, AMH |
| 5q- syndrome | RPS14 |
| Abacavir hypersensitivity | HLA-B |
| ABCD syndrome | EDNRB |
| Abdominal aortic aneurysm | TIMP2, TIMP1, TGFB1, MMP9, MMP2, POSTN, MMP8, MYH11, MMP14, MMP13, ELN, PLA2G7 |
| Abdominal obesity-metabolic syndrome | DYRK1B, CELA2A |
| Aberrant CpGs in Low Motility Sperm | CDH2, MED6, NAALAD2, ABI1, GNPDA1, ZBTB33, CDH3, TANK, HDAC6, PDCD6, BCL2L10, LNK, TROAP, THRAP5, PIGK, CDH5, PARP2, PARP3, CDH6, TOM1L1, SH2D3C, RANBP9, CDH7, UBA2, ABCB6, DNM1L, CDH8, ABCF2, NR1H3, COX17, SCAMP2, IL18BP, C21orf6, CDH9, DPP3, PTPRU, TSPAN32, TSSC4, ATP9A, CDH10, PQBP1, COL4A3BP, CDH11, ARPC5, ARPC4, ARPC3, ACTR2, CDH12, TSPAN2, TSPAN1, TRIM10, ARPC2, SGK2, RAD50, HIPK3, FEM1B, CDH13, ACTR1B, ACTR1A, ARL4C, DNAL4, PDIA6, TRAP1, BCAP31, ARFRP1, CDH16, TOB1, AKAP9, FAM13A1, G3BP, SFRS14, EBI3, ABI2, CEBPZ, PLXNC1, TRIM28, RASA4, FARP1, P2RY5, WASF2, CHST4, SERF2, CDK2, RCL1, ZNF256, RBM7, CDK3, RBM6, RNF41, ALG3, PSME3, MPHOSPH9, MPHOSPH10, CDK5, CALCRL, NUTF2, RFP2, INADL, FLOT1, DDX39, SSX3, PRG4, CTDSPL, KLRG1, CDK7, M6PRBP1, TETRAN, LRRC23, LRRC17, HNRPR, WDR68, MRPS31, RABEPK, HRSP12, POP7, SRRM1, SPRY1, SPRY2, STAM2, HCG9, CNKSR1, CDKN1A, DENND4A, SF3B4, CDK2AP2, IRX5, RAMP2, RAMP3, ZMPSTE24, AKAP8, STUB1, UBE4B, EFS, CDKN1C, OPRS1, SDCCAG10, SAP18, SMNDC1, BCAS2, RGS19, LILRB2, EIF1B, CD |
| Abetalipoproteinemia | MTTP |
| Abnormal expression may lead to spermiogenesis function injury, sperm paramorphia and dysgenesis | SLC6A1 |
| Abnormal genitalia | ARX |
| Abnormal gonadal determination | PTPN11 |
| Abnormal morphology | CLU |
| Abnormal morphology of the testes and absence of spermatozoa | GGNBP2 |
| Abnormal protamine expression and male infertility | SMCP, YBX2, PRM1 |
| Abnormal seminal plasma | FAS, FASLG |
| Abnormal sex determination | FGF13 |
| Abnormal sperm | FASLG, MMP7 |
| Abnormal sperm head morphology | PRM1 |
| Abnormal sperm morphology caused by defects in Sertoli cells | CNOT7 |
| Abnormal sperm motility | HFE |
| Abnormal sperm sample | TIMP1, MMP2 |
| Abnormal spermatogenesis | HSPA2, IGF2, KRT10, MEST, SUMO1, RXRB, HSPB1 |
| Abnormal thyroid hormone metabolism | SECISBP2 |
| Abnormal urogenital development | WT1 |
| Abnormal vacuoles in the seminiferous epithelium, showing exfoliation of germ cells, and ultrastructural abnormality of the elongate spermatids | CADM1 |
| Abnormal testicular determination | AMH |
| Abortion | MDM2, GSTT1, GSTM1, ESR1, DDR1, AIF1, ACE, TF, HSPA1B, HLA-DRB1, PRLR, IL4, IL18, IL12A, HSPA1A, HMOX1, HLA-G, HLA-DQB1, HLA-DQA1, TNFRSF1A, VEGFA, HLA-C, IL6, KIR2DS2, LIF, LTF, ACP1, FSHR, F5, HLA-A, HFE, ESR2, EGF, CYP1A1, CYP19A1, APOB, BRCA2, AR, APOE, TNF, TGFB1, SHBG, SERPINE1, PRL, PON1, PGR, MTHFD1, INHA, IL1RN, IL1B, IL10, IGF1, IFNG, HSPA1L, HLA-E, HLA-B, TP53, IGF1R, MTHFR, NOS3, MSH5, H19, LHCGR, PROKR2, NR3C1, CD46, BAT3, BRD2 |
| Abruptio placentae | F5, MTHFD1, IL1RN, MTHFR, NOS3 |
| Absence correlated with multiple sperm defects | SEPT7, SEPTIN7 |
| Absence of gonadal dysgenesis | WT1 |
| Absence of gonadotropins | FSHR |
| Absence of the vas deferens | CFTR |
| Absence of virilization | LHB |
| Acanthosis nigricans | INSR, SLC2A3, TBC1D4 |
| Acatalasemia | CAT |
| Accelerated tumor formation | MDM2 |
| Acephalic spermatozoa | DNAJB13, SUN5, CEP112, BRDT, TSGA10 |
| Acephalic spermatozoa syndrome | SUN5, PMFBP1 |
| Achalasia | NOS2, NOS3, AAAS |
| Achalasia Addisonianism Alacrima syndrome | GMPPA, AAAS |
| Acheiropodia | LMBR1 |
| Achondrogenesis type IA | TRIP11 |
| Achondrogenesis type IB | SLC26A2 |
| Achondrogenesis type II | COL2A1 |
| Achondroplasia | COL1A1, IL1RN, IL1B, FGFR3 |
| Achromatopsia | GNAT2, CNGB3 |
| Acid phosphatase deficiency | ACP2 |
| Acidosis | ACE, IL10 |
| Acinar cell carcinoma | APC |
| Acne | TNF, IL4R |
| Acne inversa | PSENEN, PSEN1 |
| Acne Vulgaris | AR, TNF |
| Acoustic Neurofibromatosis | NF2 |
| acoustic neuroma | CDKN1A, CAV1, CYP2E1 |
| Acquired immunodeficiency syndrome | TNF, BST2 |
| Acrocallosal syndrome | KIF7 |
| Acrocapitofemoral dysplasia | IHH |
| Acrocephalosyndactylia | FGFR1, TWIST1 |
| Acrodermatitis | CCL20 |
| Acrodermatitis enteropathica | SLC39A4 |
| Acrodysostosis | PRKAR1A, PDE4D |
| Acrofacial dysostosis | POLR1A, DHODH, SF3B4, EVC2 |
| Acrokeratosis verruciformis | ATP2A2 |
| Acromegaly | IGF1, GNAS, AIP, GPR101 |
| Acromelic frontonasal dysostosis | ZSWIM6 |
| Acromesomelic dysplasia | BMPR1B |
| Acromesomelic dysplasia with genital anomalies | BMPR1B |
| Acromesomelic dysplasia, Grebe type | GDF5 |
| Acromesomelic dysplasia, Maroteaux type | NPR2 |
| Acromicric dysplasia | FBN1 |
| Acrosomal de-acidification | ATP6V0A2 |
| Acrosomal defects | PICK1, SLC9A3 |
| Acrosomal exocytosis in mouse spermatozoa | GSK3B |
| Acrosomal integrity, and male fertility | CLPSL2 |
| Acrosomal protein | SPACA7 |
| Acrosome biogenesis | FLOT2 |
| Acrosome formation in spermiogenesis | SMAP2 |
| Acrosome reaction | SFRP1, GSN, PPP1CC, SPAG9, ACRV1, CFL1, PPP1CC2, GSPT1, HSP90AA1 |
| Acrosome reaction and sperm motility | AZGP1 |
| ACTH-secreting pituitary adenoma | AVPR1B |
| Actinic keratosis | CYP26A1, OCA2 |
| Actinic prurigo | TNF |
| Activated PI3K-delta syndrome | PIK3CD |
| Activity of spermatic density | LAP, TGFB1 |
| Acute anterior uveitis | HLA-B |
| Acute chest syndrome | HBB |
| Acute coronary syndrome | F3, EGFR, SULT1A1 |
| Acute intermittent porphyria | HMBS |
| Acute lung injury | SERPINE1 |
| Acute lymphoblastic leukemia | CDKN2A |
| acute lymphocytic leukemia | GFI1B, CD86, SNRPE, BCL2L1, CAST, CYP3A5, CD79B, ABCG2, HDAC2, KDM3B, HDAC4, TM9SF2, DHFR, ENG, CSPG4, TCN2, CCND1, FGA, DNTT, GPI, CYBA, PRAME, CSF3, CYP2D6, NQO1, TPMT, H1-2, KRAS, EPHX1, CFB, TYMS, CREBBP, ABO, DPYD, ITPA |
| acute monocytic leukemia | MLLT10 |
| Acute myeloid leukemia | FLT3, KIT, SPI1, KRAS, RUNX1, PML, ZBTB16, CXCR4, GATA1, TNFSF9, CD86, CALR, GATA2, GPI, TCN2, BCL2L1, GFI1B, ABCG2, FERMT2, BTG1, TP53, CCND1, CFLAR, CHI3L1, ABCC3, CDKN2B, NF1, TFR2, TET2, PRAME, FERMT3, ANAPC2, CCL2, FADD, NPM1, DLEC1, CSF3, ITGB3, CYP2D6, CTLA4, IDH2, NQO1, PICALM, KAT6A, ASXL1, FANCA, CSF3R, SRSF2, CDKN1B, TYMS, NSD1, CFHR1, EPHX1, GFI1, ABL1, FANCC, ACSL6, CREBBP, CBL, KMT2A |
| Acute myocardial infarction | CACNG4, SERPING1 |
| acute myocarditis | CD40 |
| Acute pancreatitis | IL6, IL1RN, IL1B |
| Acute promyelocytic leukemia | CCL7, PRAME, KMT2E, CDKN2B, ZBTB16 |
| Acute pyelonephritis | CXCR2 |
| Acute recurrent myoglobinuria | LPIN1 |
| Acute T cell leukemia | CARD11, JAK3, PDGFRA, CXCR4, JAK1, RPL5, NUP98, RPL11, RUNX1 |
| Acyl-CoA dehydrogenase 9 deficiency | ACAD9 |
| Adams-Oliver syndrome | NOTCH1, ARHGAP31, RBPJ, DOCK6, EOGT |
| Addison's disease | IL2RA, NR3C1, CYP21A2, ABCB1, PDCD1, VDR, CD69, HLA-A, FCGR3A, FOXP3, CCR5, IL2, HLA-DRB1, HLA-DQB1, HLA-DQA1, HLA-B, IL21, PTPN11, PTPN22, CIITA, CLEC16A |
| Adenine phosphoribosyltransferase deficiency | APRT |
| Adenocarcinoma | FANCM, RAD51, EGFR, STK11, CHEK1, STRAP, APC, NAT1 |
| adenocarcinoma in situ | FANCF |
| adenoid cystic carcinoma | TP53, XRN2 |
| Adenoma | PRKAR1A, RXRA, EFEMP1, APC |
| Adenomyosis | CYP1A1, COMT, HLA-DRB1, GJA1, SOD1, PTGS2, OXTR, ESR2, ESR1, EGF, CYP17A1, BCL2, TNF, TGFB1, PPARG, PGR, EGFR, IL1B, IL18, IL10, IFNG, VEGFA, IGF1R, HLA-G, NOS2, KRT1, CXCL8, CA125, TRPV1, ITGA4, Hmsh2, MLH1, CDKN2A, MMP2, MMP9, XDH, TIMP2, LIF, MMP7, NGF, CGA, CDH1, ANXA2, PAK1, GPX1, CAT, LHCGR |
| Adenosine deaminase deficiency | ADA |
| Adenylosuccinate lyase deficiency | ADSL |
| Adermatoglyphia | SMARCAD1 |
| Adiponectin deficiency | ADIPOQ |
| Adiposity | NR3C1 |
| Adrenal androgen excess | NR3C1 |
| Adrenal carcinoma | IGF2, TP53, GNAI2, MC2R, MEN1, CDKN1C, PTN |
| Adrenal cortex diseases | PRKAR1A |
| Adrenal cortex neoplasms | CYP11B2, TP53, CTNNB1 |
| Adrenal failure | NR5A1 |
| Adrenal gland neoplasms | SDHB |
| Adrenal hypoplasia | IL1RAPL1 |
| Adrenal insufficiency | NR5A1, HLA-DQB1, HLA-DQA1, DAX1 |
| Adrenal hypoplasia | IL1RAPL |
| Adrenocortical insufficiency | NR5A1 |
| Adrenocorticotropic hormone deficiency | TBX19 |
| Adrenoleukodystrophy | MTRR, MTHFR, MTR, ABCD1, ACSBG1, MMP10 |
| Adrogen body mass insulin polycystic ovary syndrome | GATA6 |
| Adult onset still's disease | IL1RN, IL1B, IL18, HLA-DRB1 |
| adult pineal parenchymal tumor | MKI67 |
| Adult respiratory distress syndrome | IL10, ICAM1, SERPINA3, SFTPD, TNF, PSMB9, EDN1, IL15, SFTPC, SFTPB, MIR223, CXCL5, C5, AMBP, LTA, MYLK, MBL2 |
| Adult T-cell leukemia | FAS, TP53, TAL2, TLX1, JAK3, NOTCH1 |
| Adult-onset autosomal dominant leukodystrophy | LMNB1 |
| Advanced sleep phase syndrome | AANAT, PER2, PER3 |
| Affective disorder | CLOCK, PLA2G2A, DUSP6, ACE, NCAM1 |
| Affects both spermatogenesis and somatic-oocyte interactions during gametogenesis | KDR |
| Affects male fertility in mouse | SOX8 |
| Affects sperm migration and sperm-egg binding | ADAM3A, PRSS55 |
| Affects sperm motility | PAFAH1B2, ANO5, PRM3 |
| Affects sperm motility and fertility | GSK3A |
| Affects sperm motility, Male infertility | ANO5 |
| Afibrinogenemia | FGG, FGB, FGA |
| Agammaglobulinemia | BTK |
| Agammaglobulinemias | CD79A, LRRC8A, CD79B, LRRC8B, LRRC8C, LRRC8D, BTK, IGLL1 |
| Age dependent ultrastructural modifications in human granulosa cells | SOD2, SOD1 |
| Age related macular degeneration | HTRA1 |
| Age related macular degeneration 7 | HTRA1 |
| Age-related macular degeneration | CST3, C3, TLR4, CFHR1, ERCC6, ABCA4, CFH, FBLN5, CFB, CFHR3, CX3CR1, RAX2, C2, HTRA1, CFI |
| Agenesis of the corpus callosum with peripheral neuropathy | SLC12A6 |
| Agenesis of vas deferens | CFTR |
| Agenesis of vas deferens and seminal vesicles | CACNA1S |
| Aggressive periodontitis | IL1A, TNFRSF1B, FPR1, FCGR3A, IL4, IL2, IL1B, IL18, IL6, LTF, CCL2 |
| Agnathia-otocephaly complex | PRRX1 |
| Agranulocytosis | HLA-A, HLA-B, HLA-DRB1, NQO2 |
| AHG deficiency disease | F5, HLA-A, CCR5, TNF, IL10, HLA-B, HLA-C, HLA-DRB1, MTHFR |
| AICA-ribosiduria | ATIC |
| Aicardi-Goutieres syndrome | IFIH1, RNASEH2B, ADAR, SAMHD1, RNASEH2A, TREX1 |
| Al-Awadi/Raas-Rothschild syndrome | WNT7A |
| Al-Raqad syndrome | DCPS |
| Alagille syndrome | JAG1 |
| Albright hereditary osteodystrophy | GNAS |
| Albuminuria | TGFB1, PON1, ACE, F3, TP53, VDR, VEGFA, MTHFR, SPAG16, DECR1, NOS2, NOS3, HNF1A, USP24, TGFB3, LEP, F5, CRP, APOE, TNF, IL4, IL1B, IL10, CCL5, CAT, TLR4, SOD1, PPARG, MEFV, ICAM1, LRRC4C, SERPINE1 |
| Aldosteronism | CYP11B1 |
| Alexander disease | GFAP |
| Alexithymia | COMT |
| Alkaptonuria | HGD |
| All critical processes in epididymis epithelial function | HNF1A, HNF1 |
| Allergic asthma | EPX, HLA-DPB1, HLA-DPA1 |
| Allergic bronchopulmonary aspergillosis ABPA | CFTR |
| Allergic contact dermatitis | IL16, C1QA, IL18BP, CCR1, NAT1, TAP2 |
| Allergic rhinitis | TNF, TGFB1, IL10, CCR5, CCL5, IL18, PIP, FOXJ1, CCR1, CXCL11, XCR1, IL13, GATA3, CCL26, SDAD1, FCGR2A, EPO, CCR3, CXCL10 |
| Allergy | ACP1, CFTR, CCL5, ACE, TNF, TLR4, TLR2, TGFB1, IL4, IL2, IL18, IFNG, ICAM1, HLA-DQB1, HLA-DQA1, HLA-DRB1, IL6, NOS3, PIP, HLA-DPB1, COMT |
| Allergy asthma | NOS3 |
| Alopecia | TPMT, HR, FOXN1 |
| Alopecia areata | HLA-A, CYP19A1, IL2, IL1RN, IL1B, IL1A, HLA-DQB1, HLA-DQA1, HLA-B, VDR, HLA-C, HLA-DRB1, MIF, IL2RA, NOS3, AR, KDM5A, KDM4B, HDAC7, KDM4C, KDM4A, EHMT2, HDAC2, CTLA4, NOTCH4, PTPN22 |
| Alopecia neurologic defects and endocrinopathy syndrome | RBM28 |
| Alopecia universalis | HR |
| Alopecia-mental retardation syndrome | AHSG |
| Alpers syndrome | POLG |
| Alpha 1-antitrypsin deficiency | GSTP1, SERPINA3, HFE, CFTR, TNF, TGFB1, SERPINE1, SERPINA1, IL10, HLA-DRB1, IL6, MTHFR, NOS3, MMP12, MAN1B1, SERPINA5 |
| Alpha thalassemia | HBA1, HP, HBA2, HBB |
| Alpha thalassemia-X-linked intellectual disability syndrome | ATRX |
| Alpha-1-antichymotrypsin deficiency | SERPINA3 |
| Alpha-1-antitrypsin deficiency | SERPINA1 |
| Alpha-2-macroglobulin deficiency | A2M |
| Alpha-2-plasmin inhibitor | SERPINF2 |
| Alpha-ketoglutarate dehydrogenase complex deficiency | DLD, OGDH |
| Alpha-mannosidosis | MAN2B1 |
| Alpha-methylacetoacetic aciduria | ACAT1 |
| Alpha-methylacyl-CoA racemase deficiency | AMACR |
| Alpha-N-acetylgalactosaminidase deficiency | NAGA |
| Alpha-thalassemia | G6PD, HFE, MYB |
| Alport syndrome | COL4A3, COL4A4, MYH9 |
| Alstrom syndrome | ALMS1 |
| Altered differentiation and/or maturation of endometrium | CFL1 |
| Altered epididymal and sperm integrity | ADAM7 |
| Altered fertility | CFTR |
| Altered meiotic progression | CDH2 |
| Altered sperm apoptosis | FAS, CASP8 |
| Altered sperm apoptosis, poor semen quality | CASP8 |
| Altered sperm maturation | ALOX15 |
| Altered sperm motility | IL17BR |
| Altered the morphology of cultured Sertoli cells and decreased lactate and transferrin secretions | IGF1R |
| Alternating hemiplegia of childhood | ATP1A3, ATP1A2 |
| Alters sermatozoa morphology | PRKAA1 |
| Alters spermatozoa morphology | PRKAA1 |
| Alveolar bone loss | TNF, IL1RN, IL1B, IL1A, VDR |
| Alveolar capillary dysplasia with misalignment of pulmonary veins | FOXF1 |
| Alveolar rhabdomyosarcoma | FOXO1, ATR, MDM2 |
| Alveolar soft part sarcoma | TFE3 |
| Alveolitis | HLA-A, TNF, TGFB1, PDCD1, HLA-DQB1, HLA-B, HLA-C, HLA-DRB1, IL10, IL6 |
| Alzheimer disease | PSEN1, PSEN2 |
| Alzheimer's disease | CYP1A1, NAT2, UBQLN1, MTHFR, RXRB, SLC2A9, CLU, BMP4, ARSA, SOX3, PLA2G6, PARP1, IL1R2, USF1, SAA1, AGTR1, TCF7L2, CX3CL1, SIRT1, ACAT1, IL33, ATP8, LCN1, GSK3B, GAPDHS, GSTM3, GPX1, GSTT1, GSTM1, GDF15, GSTP1, GH1, GFRA1, GC, GAPDH, GATA1, FYN, FAS, FASLG, FSHR, FGFR3, FGFR2, FGFR1, F3, F10, FGF13, ESR2, ESR1, ERCC2, EDNRA, CYP19A1, CYP11B2, AHR, APEX1, COL1A1, CCR5, CCL5, CBS, CAT, C3, BCL2, APOE, APOB, APOA1, AKT1, ATP6, CASP1, ACE, ABCB1, ABCA1, TNF, TLR4, TIMP2, TGFB1, TF, SOD2, SERPINE1, SERPINA3, SERPINA1, PTGS2, PTGS1, PPARG, PON2, PON1, PLAT, MTHFD1, MMP9, MEFV, LMNA, DNAH11, IL4, IL2, IL1RN, IL1B, IL1A, IL18, IL12A, IL11, IL10, IGF1, IFNG, ICAM1, HSPA2, HSPA1B, HSPA1A, HMOX1, HLA-DRA, HLA-A, TNFRSF1A, TNFRSF1B, TP53, VDR, VEGFA, VWF, WT1, XRCC1, BDNF, COMT, HLA-DRB1, IGF2, IL6, LEPR, MIF, MTR, SOD1, CST3, CYP17A1, MMP2, MGMT, LHCGR, NGF, HNF1A, AR, IGF2R, ITGB1, IL2RA, NODAL, BRWD2, NOS2, COX10, NOS3, CXCL8, HTR2A, NECTIN2, PTBP1, PRND, RARA, STK11, JMJD1C, SPAG6, ADAM10, CREB1, KIFBP, HK1, PRKAA1, |
| Ambiguous external genitalia | SRD5A2 |
| Ambiguous genitalia | CYP19A1, AMH, SRD5A2, WT1, AR, CREM, NR5A1 |
| Amelogenesis imperfecta | SLC24A4, AMBN, ITGB6, FAM20A, MMP20, FAM83H, LAMB3, ACP4, ODAPH, GPR68, WDR72, KLK4, FAM20C |
| Amenorrhea | CYP17A1 |
| Amenorrhoea | GNRHR, FSHR, FGFR1, TP53, GHRL, LEP, AMH, INHBA, LHCGR, PROKR2, KAL1 |
| Amino acid metabolic disorder | GCSH, PCCA, PCCB, ASL, SLC25A15, CTH, IVD, PHGDH, HMGCL |
| Amnesia | APOE, BDNF |
| AMP deaminase deficiency | AMPD3 |
| Amyloidosis | GSN, APOE, TNF, TLR4, TLR2, SERPINE1, MEFV, IL1RN, IL1B, TNFRSF1A, COMT, HLA-DRB1, IL6, SAA1, APP, A2M, ADIPOQ, GOT1, APCS |
| Amyotrophic lateral sclerosis | FUS, OPTN, MATR3, HNRNPA1, ALS2, VAPB, NEFH, SETX, CHMP2B, ANXA11, PRPH, SIGMAR1, ANG, EPO, GRN, EIF2AK2, MT3, LRRK2, HDAC4, SERPINF1, MTREX, BPTF, SLC1A2, ADARB1, KEAP1, PPARGC1A, NEFL, GOT1, HMGB1, TFAM, TXNRD1, AOX1, UNC13A, ITPR2 |
| Amyotrophic lateral sclerosis (ALS) | AGTR1, PGF, DPP6, HFE, F5, CYP1A2, CYP1A1, CST3, APOB, TNF, TGFB1, SOD1, SERPINE1, PTGS2, PPARG, PON2, PON1, LEP, ICAM1, VDR, VEGFA, HEXA, MTHFR, MMP12, MIF, INHBA, CDC42, ADAMTS16, DYNC1H1, NOS3, ELF5, MORN2, MMP9, HGF, VCP, ERBB4, TUBA4A, APOE, TARDBP, OGG1, ANK1, NLGN1, SUNC1, LAMA2, VPS54, MAPT |
| Analbuminemia | ALB |
| Anaphylactoid purpura | HLA-DQA1 |
| Anaphylaxis | KIT, IL10, NLRP3 |
| Anaplastic astrocytoma | TP53, EGFR, PTEN |
| anaplastic large cell lymphoma | JUNB |
| Anaplastic large-cell lymphoma | DUSP22, ALK |
| Anauxetic dysplasia | POP1 |
| Andersen-Tawil syndrome | KCNJ2 |
| Androgen insensitivity syndrome | AMH |
| Androgen insensitivity syndrome (AIS) | AR, AMH, NCOA2, HBO1, SOX9, HSD17B3 |
| Androgenetic alopecia | SRD5A2, SRD5A1 |
| Androgen insensitivity syndrome | NCOA2, HBO1 |
| Androgen insensitivity syndrome (AIS) | AMH, SOX9 |
| Andrological diseases | HGF, TGFB1 |
| Anemia | TGFB1, GSS, HFE, GSTM1, GSTT1, F5, CYP1A1, CCR5, CCL5, APOB, TNF, SERPINE1, MTRR, IL1B, IL10, IFNG, HLA-E, HLA-DQB1, HLA-B, HLA-A, TNFRSF1A, TNFRSF1B, VDR, HLA-DRB1, MTHFR, MTR, MIF, APOE, TERF2, TERF1, G6PD, GPX1, PGK1, HSPA9, BMP4, TF, HK1, ACE, HAMP, EPO, VCAM1, EPOR, EPHX1, ITPA |
| Anemia due to disorders of glutathione metabolism | GCLC |
| Anemia due to disorders of glycolytic enzymes | BPGM, TPI1, GPI |
| Anemia due to disorders of nucleotide metabolism | AK1 |
| Anencephaly | MTHFR, RPGRIP1L |
| Aneurysm | SLC19A1, GPX1, F5, CCR5, CBS, ACE, TNF, SERPINE1, SERPINA3, PON1, PLAT, MTRR, MTHFD1, IL1RN, IL1B, IL1A, IL10, HMOX1, HLA-B, HLA-A, HLA-DRB1, IL6, MTR, PON2, APOE, NOS3, MMP2, CRP, PTGS2, TIMP1, MMP12, MMP9 |
| Angel shaped phalangoepiphyseal dysplasia | GDF5 |
| Angelman syndrome | UBE3A |
| Angina pectoris | KIR2DL2, APOB, ACE, TNF, TLR4, TGFB1, SOD2, SERPINE1, PPARG, PON1, IL1RN, IL1A, IL10, IFNG, ICAM1, VEGFA, BDNF, IL6, AR, NOS3, APOE, CRP, PTGS2, MMP9 |
| Angioedema | ACE, TGFB1, SERPING1, F12 |
| Angiogenesis | VEGFA |
| Angiokeratoma | NAGA |
| Angiomyolipoma | IFNG, OGG1, TSC2 |
| Angiopathy | TGFB1 |
| Angiosarcoma | KRAS, HRAS |
| angle-closure glaucoma | EDN1 |
| Aniridia | ELP4, TRIM44 |
| Ankylosing spondylitis | CYP1A1, ACE, TNF, TLR4, TGFB1, SOD2, PDCD1, IL4, IL1RN, IL1B, IL1A, IL10, HSPA1A, HLA-DQB1, HLA-DQA1, HLA-B, VEGFA, HLA-C, HLA-DRB1, IL6, IL1R2, HLA-E, NFKB1, KIR2DL2, KIR2DS2, MEFV, TLR2, TLR5, THBD, ADIPOQ, TAP2, PTGER4, TAP1, JAK2, IL23R, ASPN, ANO6, KDM5A, PSMB9, IRAK1 |
| Anodontia | MSX1, DKK1, MMP13, GLI3 |
| Anophthalmia and microphthalmia | SHH, BMP4, SOX2 |
| Anophthalmos | SOX2, OTX2 |
| Anorchia | INSL3, NR5A1, RXFP2 |
| Anorectal malformations | SHH |
| Anorexia nervosa | SPATA17, GHRL, FTO, ESR2, ESR1, CLOCK, TNF, BDNF, COMT, IGF2, HTR2A, ETV5, MTCH2, AKAP6 |
| Anovulation | AMHR2, FSHR, FSHB, LHB, CRP, PRL, GNRH1, AMH |
| Anoxia | BMPR2, HIF1A, GSTP1, ACE, TGFB1, MDM2, APOE, TF, AR, SERPINE2, KDR |
| anterior ischemic optic neuropathy | CSF3, MT-ND1 |
| Anterior pituitary hypoplasia | SOX2 |
| Anterior segment dysgenesis | CYP1B1, PITX3, PXDN, FOXC1, CPAMD8, FOXE3, PITX2 |
| Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | IL2 |
| Antiphospholipid syndrome | HLA-DPB1, STAT4, F5, TNF, SERPINE1, HLA-DQB1, HLA-DQA1, HLA-DRB1, MTHFR, NOS3, PROC, APOH |
| Antisocial personality disorder | DRD4 |
| Antisperm antibody-related infertility | PDCD1 |
| Antisperm antibody-related infertility | PD-1 |
| Antithrombin fibrinogen protein C protein S thrombosis | ESR2 |
| Antithrombin III deficiency | SERPINC1 |
| Antley-Bixler syndrome | FGFR2, POR |
| Antral follicle morphology | FSHR, AR |
| Anus diseases | TLR4 |
| Anus neoplasms | TP53, EGFR |
| Anxiety disorder | PON1, BDNF, COMT, ACHE, GAD1, DRD2, NPY |
| Aortic aneurysm | ESR2, ESR1, TIMP2, TGFB3, TGFB1, SERPINE1, PGR, MTHFD1, HMOX1, HLA-DQB1, HLA-DQA1, HLA-DRB1, MTHFR, TIMP1, NOS3, MMP9, MMP2, MMP12, HDAC4, PTGER4, ELN, FBN1 |
| Aortic disease | SMAD4 |
| Aortic diseases | TNF |
| Aortic stenosis | CCR5, IL10 |
| Aortic stiffness | ACE, MMP9 |
| Aortic valve disease 1 | NOTCH1 |
| Aortic valve disease 2 | NKX2-5 |
| Aortic valve insufficiency | MBL2 |
| Aortic valve sclerosis | ESR1 |
| Aortic valve stenosis | ACE, VDR, MTHFR, APOE, TNFRSF11B, ADRB1, EGR1, JARID2, OGT, BAMBI, PPP3CB, ELN |
| Aortoarteritis | HLA-DRB1 |
| Apert syndrome | FGFR2 |
| Aphasia | APOE |
| Aphthous stomatitis | IL12A, IL10 |
| Aplasia cutis congenita | BMS1 |
| Aplasia of lacrimal and salivary glands | FGF10 |
| Aplastic anemia | HFE, GSTM1, GSTP1, IL12A, IL10, HLA-B, HLA-A, HLA-DRB1, IFNG, NBN, TERT, PRF1, TERC, CD86, GFI1B, GATA2, ANAPC2, FLT3LG, THPO, EPHX1, TNF, DKC1 |
| Apoplexy | EPHX2, ABCC1, HFE, GAS6, F5, F10, ESR2, ESR1, ERCC2, CYP11B2, CCR5, CBS, APOB, APEX1, ACE, ABCB1, TNF, TLR4, TGFB1, SERPINE1, SLC19A1, PPARG, PON1, MTRR, IL4, IL1RN, IL1B, IL1A, IL18, IGF1, HMOX1, VEGFA, XRCC1, BDNF, HLA-DRB1, IL6, MTHFR, APOE, SBF1, NOS3, CXCL8, ROPN1, MTR, CRP, MTHFD1, PON2, KIF6, PNLDC1, MMP9, MMP2 |
| Apparent mineralocorticoid excess syndrome | HSD11B2 |
| appendiceal neoplasm | NAP1L1 |
| Arcus senilis | KERA |
| Argininosuccinic aciduria | ASL |
| Argyrophilic grain disease | A2M |
| Arima syndrome | CEP290 |
| Aromatase deficiency | CYP19A1 |
| Aromatase excess syndrome | CYP19A1 |
| Aromatic L-amino acid decarboxylase deficiency | DDC |
| Arrested spermatogenesis | AR |
| Arrhythmias | PTPN11, RAF1 |
| Arrhythmogenic right ventricular cardiomyopathy | TGFB3, TMEM43, RYR2, DSP, PKP2, DSG2, DSC2, JUP, SCN5A, ACTN2, DES |
| Arrhythmogenic right ventricular dysplasia | ACE |
| Arterial disease | ACE, SERPINE1, NOS3 |
| Arterial hypertension | FYN, TRH |
| Arterial Occlusive Diseases | F5, ICAM1, MTHFR |
| Arterial stiffness | NOS3, MMP9 |
| Arterial thrombosis | ADAMTS1 |
| Arterial tortuosity syndrome | SLC2A10 |
| Arteriosclerosis | IL15, ALPL, TNFRSF14, NME2, EGR1, CDH13, TGFBR2, CHI3L1, F7, APOH, MMP14, NPPC, CD36, IFNGR1, ALOX5AP, NOTCH4, FURIN, AKR1B1, MGP, LDLR, PTGER4, MMP13, ESR1, ITGA2, NPY, SERPINA1, HP, ALOX5, LCAT |
| Arteriosclerosis obliterans | THPO |
| Arteriovenous malformation | RASA1, ENG, TEK |
| Arteriovenous malformations of the brain | ENG |
| Arthralgia | HFE, COMT |
| Arthritis | IL6ST, IL23A, ITGAV, IL17A, CSNK2B, HFE, FCGR3A, ESR2, ESR1, CYP1A2, CYP1A1, CYP19A1, CCR5, CCL5, CAT, ACE, ABCC1, ABCB1, A2M, TNF, TLR4, TLR2, TIMP2, SOD2, PRL, PARP1, NAT2, MTRR, MMP2, IL4, IL2, IL1RN, IL1B, IL1A, IL18, IL12A, IL10, IFNG, IFNA1, ICAM1, HSPA1L, HMOX1, HLA-G, HLA-DRA, HLA-DQB1, HLA-DQA1, HLA-B, HLA-A, TNFRSF1A, TNFRSF1B, VDR, VEGFA, ZNF313, XRCC1, HLA-C, HLA-DRB1, IL6, KIR2DS2, MIF, MTHFR, MEFV, MDM2, IL2RA, IL21, TF, NOS3, AR, CXCL8, AGFG1, BAT3, CD44, CRP, MTHFD1, MTR, PTGS2, IL6R, PRF1, NFKB1, AIF1, CD69, RAG1, TIMP1, NR2F2, MPG, CD99, MAPK14, HSPD1, HLA-DPB1, MIR146A, TDRD9, GSTT1, GSTP1, GSTM1, TGFB1, CD40, IL23R |
| Arthrofibrosis | HLA-DQB1, HLA-B, HLA-A, HLA-C, HLA-DRB1 |
| Arthrogryposis multiplex congenita, neurogenic, with myelin defect | LGI4 |
| Arthrogryposis, mental retardation, and seizures | SLC35A3 |
| Arthrogryposis, renal dysfunction, and cholestasis | VPS33B, VIPAS39 |
| Arthus reaction | FCGR2A |
| Articulation disorder | CNTNAP2, FOXP2 |
| Articulation disorders | SOS1, RAF1 |
| Arts syndrome | PRPS1, PITX2 |
| Arylsulphatase A pseudodeficiency | ARSA |
| asbestos-related lung carcinoma | KIF5A, RARB |
| Ascorbic acid deficiency | GSTT1, GSTP1, GSTM1 |
| Asparagine synthetase deficiency | ASNS |
| Aspartylglucosaminuria | AGA |
| Asperger syndrome | NLGN4X, DISC1, SLC25A12 |
| Aspermia | RAP1A |
| Asphyxia | TNF |
| Asphyxia neonatorum | IL1B, IL6 |
| Asphyxiating thoracic dystrophy | DYNC2H1, WDR19, TTC21B, IFT80, NEK1 |
| Assocaited with impaired spermatogenesis | CDC7 |
| Assocaited with male germ cell maturation | MIR18A |
| Assocaited with regulation of round spermatid-specific gene transcription and acrosome biogenesis | ACRV1 |
| Assocaited with sperm acrosome reaction | PRKACA |
| Assocaited with sperm capacitation | RHOA, EZR |
| Assocaited with sperm motility | F2RL1 |
| Associated in developing germ cells during spermatogenesis | ADCYAP1 |
| Associated in human sperm interaction with homologous zona pellucida | POLD3 |
| Associated to the cytoskeleton and GABAB receptors in mammalian testis | JAKMIP1 |
| Associated wih sertoli cell dysfunction | INHA |
| Associated wih sperm production | SPEM1 |
| Associated wih sperm production and male fertility | SPEM1, PRM1 |
| Associated with control of growth and development of the male internal genital tract | ARHGDIA |
| Associated with a cytoskeletal complex in the testis | PPP1R42 |
| Associated with abnormal spermatogenesis | CD1D |
| Associated with abnormal spermatogenesis and reduced fertility | GPX4 |
| Associated with acrosomal exocytosis | ZP1, ZP4, ZP3 |
| Associated with acrosomal integrity and male fertility | SPINK13 |
| Associated with acrosome function | CRISP4, CRISP1 |
| Associated with acrosome reaction | STX2, SYT8 |
| Associated with acrosome reaction and fertilization | TRIM36 |
| Associated with apoptosis of spermatocytes | MTCH2 |
| Associated with decreased sperm motility | PRM2 |
| Associated with delayed spermatogenesis | PRM2 |
| Associated with development and maintenance of sperm motility, asthenozoospermia | PIK3CA |
| Associated with differentiation of spermatogonia | KIT |
| Associated with embryo implantation | KDR |
| Associated with failed meiosis, germ cell apoptosis | HSPA1A |
| Associated with fertility period | NRIP1 |
| Associated with fertilization | KDR |
| Associated with gene transcription dring spermatogenesis | CREM, SPAG8 |
| Associated with gene transcription during spermatogenesis | SPAG8 |
| Associated with germ cell meiosis | ZCWPW1 |
| Associated with germ-cell proliferation in early puberty, and for germ-cell survival and fertility | BMP8B |
| Associated with human sperm cell function | CHDH |
| Associated with human spermatogenesis | RANBP9 |
| Associated with hyperactivated motility needed late in the preparation of sperm for fertilization | CATSPER1 |
| Associated with impaired spermatogenesis | GJA1 |
| Associated with inability of the sperm to regulate the cell volume and in abnormal sperm morphology and immotility | GPX4 |
| Associated with inhibition of capacitation and acrosome reaction | CRISP1 |
| Associated with lack of germ cells in testes or severe oligo-astheno-teratozoospermia | NANOS1 |
| Associated with male fertility and sperm-egg adhesion | EQTN |
| Associated with male fertility via maintaining sperm ion balance | EMC10 |
| Associated with male germ cell development | TBP, USP9Y |
| Associated with male germ cell maturation | MIR18A, HSF2 |
| Associated with male infertility | CSTF2T, TJP2, GJA1, APOB, NECTIN2 |
| Associated with male infertility due to progressive loss of spermatogonia | VRK1 |
| Associated with male sterility | UBE2B |
| Associated with male sterility and stage -specific arrest of sperm maturation as the spermatids undergo apoptosis | CREM |
| Associated with male testis differentiation and gametogenesis | SOX3 |
| Associated with mammalian male reproduction | TEX35 |
| Associated with mammalian sperm maturation | PATE1 |
| Associated with meiotic impairment and infertility | BRCA2 |
| Associated with mouse spermatogenesis | RFX2, MYB, ZFAND3 |
| Associated with multiple stages of spermatogenesis and spermiogenesis, possibly during sperm maturation and/or morphogenesis | TESMIN |
| Associated with normal speramtogenesis | FGFR1 |
| Associated with normal sperm production | HMGA1 |
| Associated with oocyte maturation | KDR |
| Associated with progressive motility | CATSPER1 |
| Associated with regulation of round spermatid-specific gene transcription and acrosome biogenesis | ACRV1 |
| Associated with semen quality | CHEK1 |
| Associated with sertoli cell function and survival | DICER1 |
| Associated with severe defect in spermatogenesis | MEIG1 |
| Associated with speramtogenesis | MIR184 |
| Associated with sperm acrosome reaction | PRKACA |
| Associated with sperm after capacitation and AR, and is relevant for sperm-oocyte interaction | PRDX2 |
| Associated with sperm capacitation | RHOA, ITM2B, ADAM7, ARHGDIA |
| Associated with sperm cell apoptosis | PARP2 |
| Associated with sperm development | Ssty1, RBMY1A1 |
| Associated with sperm function | NLGN1 |
| Associated with sperm function, modulates the processes of fertilization and early embryonic development in vivo | NLGN1 |
| Associated with sperm hyperactivation | CATSPER2 |
| Associated with sperm maturation in the epididymus | VEGFA |
| Associated with sperm motility | Pramel1, SPAG9, PPP1CC, CLGN, SFRP1, PAPPA, CYP19A1, PPP1CC2 |
| Associated with sperm motility and fertility | SLC9B1 |
| Associated with sperm motility and sperm-egg interaction abnormalities | RSPH1 |
| Associated with sperm motility defect | ADCY1 |
| Associated with sperm motility, euspermic and infertile asthenozoospermia | CALM1 |
| Associated with sperm motility, may play a role in capacitation and/or the acrosome reaction | TNK2 |
| Associated with sperm quality | KIT |
| Associated with sperm structural defects | ENO4 |
| Associated with spermatic motility | DDX4 |
| Associated with spermatid maturation | MAST2 |
| Associated with spermatocyte-specific translation | DMRTC2 |
| Associated with spermatogenesis | TERF2, PAFAH1B1, MIR184, PRSS41, SMC6, TMEM119, SPATA7, SPATA5, PENK, PDE4A, CREB1, HDGFL1, RGS3, RNF4, DAZAP1, PKD2L2, Zfp35, CREM, BAG6, TP63 |
| Associated with spermatogenesis and differentiation of the Sertoli and other somatic cell types of the testis | MYBL2, MYBL1 |
| Associated with spermatogenesis and epigenetic regulation | CDKN2C, CLGN, CTCF, DMC1, TUSC2, CREM, CTCFL, CSF1, CSNK2A2, ADAM3A, CYP19A1, DAZL, ACE, DMRT1, DNMT1, TRDMT1, DNMT3A, DNMT3B, EGR4, FANCA, FANCC, FANCG, SIRT2, SIRT5, SIRT4, SIRT3, SIRT1, SPO11, ADAM2, DNAH1, GJA1, MORC1, DNMT3L, HCLS1, HDAC1, HDAC2, HMGB2, APAF1, AGFG1*, HSPA1B, APOB, FAS, INHA, INPP5B, AR, KIT, LHCGR, LIMK2, MAN2A2, KITLG, MLH1, MSH5, MTHFR, MYBL1, ATM, CLDN11, SYCP3, DHH, SERPINA5, THEG, SIRT7, SIRT6, PIK3CG, PMS2, DDX4, PCSK4, PPP1CC, STRBP, HDAC8, PRM2*, PRM1, BAX, PRM3*, BCL2, BCL2L2, BCL6, ROS1, RXRB, CPEB1, SIAH1, SLC12A2, BMP8B, BDRT, STYX, BSG, TERT, TNP1, TNP2, UBE2B, VDAC3, EMHT1*, CAMK4, NCOA3, HAT1, NCOA1, HDAC3, CCNA1, TBPL1 |
| Associated with spermatogenesis and germ cell degeneration | NOS3 |
| Associated with spermatogenesis and male infertility | RBMY1HP |
| Associated with spermatogenesis and may be correlated with male infertility | KIF2C |
| Associated with spermatogenic failure | SPATA33 |
| Associated with spermatoid elongation | KIFBP, KIF3A, KIF1BP |
| Associated with spermiogenesis | GNA13, PAIP2A, HK1, EIF4G1, DNAJA1, RGS22, SASH3, TDRD5, KHDRBS1 |
| Associated with spermiogenesis and fertilization | FAM170B |
| Associated with testis development | TSC22D3 |
| Associated with testis development and events such as seminiferous cord formation | NTRK3, NTRK1 |
| Associated with testis vacuolation and impaired sperm function | ATRN |
| Associated with the fibrous sheath, that becomes an integral part of the mouse sperm cytoskeleton | GSTM1 |
| Associates to the cytoskeleton and GABAB receptors in mammalian testis | JAKMIP1 |
| Association with mammalian male reproduction | TEX35 |
| Astheno-teratozoospermia | CFAP91 |
| Asthenoozoospermia | MIR933, LINC01364, MIR4748, B4GALT4?AS1, RORA?AS2, LINC01797, STARD6, CFAP206, CYP2B7P, ADAM3A, GALNTL5, SNORD8, LRRC9, MUC21, LIFR, APOBEC4, LINC00863, LINC02372, CPEB2-DT, MT?CO1, MTCYB, MT-ND1, MT-ND4L, MTND5, VPS54, TREM2, ADGRL4, SNORA7B, SNORD32B, SNORD71, SNORD94, SNORD104, HIST1H2BA, MIR657, GNPAT, GMFG |
| Asthenospermia | CHEK1, KIF3A, CHEK2, P38MAPK, CYB5A, COXII, EPHX2, KIF6, DKKL1, AR, MIR122, MT-ATP6, MTATP6, MT-ATP8, COXI, MTCYB, PCMT1, MYO15A, PHB, POLG, KIF26B, ERK, PTGS1, STARD9, TPM1, DYNC2H1, MYOHD1 |
| Asthenospermia | COXII, THG1L |
| Asthenoteratospermia | CFTR, TAC3, RSPH3, SPAG6 |
| Asthenoteratospermia due to acrosome hypoplasia and flagellum malformations | CFAP65 |
| Asthenoteratospermia | TTC21A |
| Asthenoteratozoospermia | FN1, CFTR, ACE, SOD1, STRC, TNF, CATSPER2, KISS1, TAC3, CRISP2, CFAP69, ARMC2 |
| Asthenoteratozoospermia with severe MMAF | DZIP1 |
| Asthenozoospemia | MIR147B, MIR374B, MIR365A, MIR103B1, MIR103B2, MIR320B2, MIR3154, MIR2861, MIR320E, MIR4290, MIR4312, MIR4324, MIR4286, MIR3159, MIR4298, MIR4313, MIR3917, MIR3614, MIR3682, MIR3679, MIR103A1, MIR103A2, MIR122, MIR125A, MIR125B1, MIR126, MIR127, MIR130B, MIR136, MIR141, MIR142, MIR144, MIR146A, MIR148A, MIR149, MIR185, MIR193A, MIR196A1, MIR196A2, MIR200A, MIR200B, MIR210, MIR222, MIR223, MIR24-1, MIR24-2, MIR26A1, MIR26A2, MIR27A, MIR27B, MIR29A, MIR29B1, MIR29B2, MIR29C, MIR30A, MIR30B, MIR30D, MIR30E, MIR33A, MIR34A, MIR34B, MIR98, MIR99A, MIR17HG, MIR135B, MIR374A, MIR451A, MIR193B, MIR520B, MIR499A, MIR486-1 |
| Asthenozoospermia | FSHR, CFTR, APOB, ATP6, NOS3, DAO, SLC26A8, PRM1, PRM2, PCMT1, TNP2, TNP1, GFPT2, GAPDH, GPX4, GSTM1, GP130, GC, GPX1, FN1, EPHX2, ANXA5, ATP8, ACE, TNF, TGFB1, POLG, PGR, PARK7, DYNC2H1, IL1B, IL1A, HSPA2, TPM1, VEGFA, IL6ST, MTHFR, NFE2L2, CYTB, IL6R, NGF, SOD1, KIF6, RNASET2, KRT1, KRT10, DYNC1H1, DAZ1, CXCL8, HTR2A, SEMG1, PHB, CDC42, CD9, PRKAA1, IL6, CABYR, CatSper1, VCP, CRISP2, ERp57, ACTRT2, SLC18A1, DKKL1, SPAG6, SLC22A14, DAZL, TEKT2, IQCG, METTL14, METTL3, LSM5, CATSPERZ, USP26, ATP2B4, SMCP, LEP, MIR146B, MIR513A2, MAPK14, ANXA6, SEPTIN4, S100A11, ROPN1, IL2RA, SPANXB1, SOD2, GH1, XAB2, DNAI1, DNAH5, TERT, OXT, TUBB3, KIF3A, DMN, MYO15A, OAZ3, TUBA8, THG1L, KIF26B, ADYC10, STARD9, ASRGL1, MYOHD1, CAB2, CATSPER2, TEKT4, ACTN4, PATE1, DNAH12, H19, CATSPER3, TUBB2B, H1-9P, CATSPER4, COA6, MIR122, MIR141, MIR27B, MIR151A, HOTAIR, MIR374B, GALNTL5, CD79A, KISS1, MIR181A1, MIR34C, PLAT, TEP1, LTF, IL5, MTR, KLHL10, CASP3, CX3CL1, OXTR, ANXA2, ANXA4, HABP1, CA2, SEPTIN7, P38MAPK, CYB5A, MTCO2P12, MTATP6 |
| Asthenozoospermia and multiple morphological abnormalities of sperm flagella | DNAH17 |
| Asthenozoospermia, Male infertility | LSM5, NDUFS3 |
| Asthenozoospermia | SPAG17, RNASET2 |
| Asthma | TGFBR3, STAT3, SOX9, SLC22A5, MUC5B, IL5, ARG2, CYP24A1, IL17RB, GSTT1, GSTP1, GSTM1, GNAS, GPX1, GPX4, GSTM3, GABBR2, GC, GHRL, FKBP4, FGFRL1, FCGR3A, ESR1, CYP1B1, CYP1A2, CYP1A1, CFTR, CCL5, CAT, ACP1, ACE, ABCB1, CCR5, TNF, TLR4, TLR2, TGFB1, SOD2, SERPINE1, SERPINA3, SERPINA1, PTGDS, PPARG, PON1, NAT2, MUC1, MMP9, IL4, IL1RN, IL1B, IL1A, IL10, IFNG, ICAM1, HSPA1B, HSPA1A, HMOX1, HLA-DRA, HLA-DQB1, HLA-DQA1, HLA-DPB1, HLA-B, HLA-A, VDR, VEGFA, BDNF, HLA-C, IL6, LEPR, MIF, MTHFR, IL2, IL18, C3, MMP12, MEFV, EZR, IL17A, KDR, IL6R, IL21, SULT1A1, TERT, LAMA1, ADCY2, STAT4, CDK2, BRD2, ANK1, KANK1, NOS2, NOS3, CXCL8, TRPV4, TAC3, PRKCA, CREB1, ELF5, DCDC2C, ELF3, HTR2A, SFRP1, MIR142, IL33, HSP90AA1, HLA-DRB1, HLA-G, ABCC1, CX3CL1, EDNRA, EGFR, IL12A, LEP, PARP1, PLAU, PON2, EPHX2, WDR11, PTGS2, CDKN2A, PTGS1, PLAUR, NFE2L2, ALOX15, TIMP1, CASP8, RANTES, SMAP2, AGTPBP1, TF, NR3C1, NRG1, IL2RA, ETV5, STK33, TUSC3, IL13, ADRB2, IL4R, ADAM33, MS4A2, CCL17, IL19, CYP2E1, EPX, CCR3, CXCL10, CXCR3, CCL20, FCGR2A, I |
| Astroblastoma | PIK3R1 |
| Astrocytoma | GSTP1, GSTT1, GSTM1, NAT2, TP53, PON1, PIK3CA, IDH1, EGFR, MMP7, ATRX, TPT1-AS1, ADGRB1, ANXA1, MRE11, CAMK2G, MAP2K3, IL16, AKT2, BST2, NEDD8, MIR155HG, AKT3, CCND1, NF1, CADM2, BRAF, KRAS |
| Ataxia | POLG, FMR1, ATM, TRNL1, MT-ATP6 |
| ataxia telangiectasia | HDAC4, BIK |
| Ataxia with isolated vitamin E deficiency | TTPA |
| Ataxia with ocular apraxia | APTX, SETX, PIK3R5 |
| Ataxia with oculomotor apraxia type 1 | APTX |
| Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | DNAJC3 |
| Ataxia-telangiectasia-like syndrome | MRE11 |
| Atelosteogenesis type I and III | FLNB |
| Atelosteogenesis type II | SLC26A2 |
| Athenozoospermia | IZUMO1, SPAG6 |
| Atherosclerosis | ABCA1, DMPK, HFE, GSTT1, GSTM3, GSTM1, GPX1, F5, FCGR3A, F3, FOXO1A, FTO, AGTR1, ESR2, ESR1, CYP1A1, CYP11B2, ALOX15, CCL5, CBS, APOB, APOA1, AKT1, CAT, ACP1, ACE, TNF, TLR4, TGFB3, TGFB1, TAS2R38, SOD2, SERPINE1, SERPINA1, PPARG, PON1, PLAT, NAT2, MTRR, LMNA, INSR, IL1RN, IL1B, IL1A, IL10, IGF1, IFNG, ICAM1, HSPA1B, HMOX1, HLA-DQB1, HLA-DQA1, TNFRSF1A, TNFRSF1B, TP53, USF1, VDR, VEGFA, VWF, COMT, GHRL, GSTP1, GSR, GPX4, GNAS, HLA-DRB1, IL6, LEPR, MTHFR, GAS6, IL4, CYP17A1, APOE, IL1R2, IL12A, ITGB1, NOS2, TERT, APP, NOS3, AR, CASP1, CXCL8, PLTP, CALM1, PRKAA1, PAFAH1B1, CHEK2, PAFAH1B2, CX3CL1, NR3C1, KIF6, C3, CCR5, CYP19A1, IGF2, IL18, IL2, CSF1, MTHFD1, MTR, TCF7L2, TLR2, EDNRA, TIMP2, PTGS2, PTGS1, NFE2L2, EPHX2, CRP, CDKN2A, AXL, SOD1, SLC2A1, ABCC1, NR1H3, MMP9, MMP2, MEF2A, RXRA, TNFAIP3, DNAH5, MMP12, MIF, ITGA6, IFNAR2, NRG1, HSPA1A, NGFR, HNRNPC, AGER, FGF21, PTGES3, GRN, PECAM1, UCN2, ADIPOQ, ADD1, PLA2G7, COL4A2, FCGR2A |
| Atherothrombosis | HLA-DQA1 |
| Atopic dermatitis | TGFB1, IL4, IL12A, CCL5, IL18, TLR2, SPINK5, IRAK2, IL13, NOD2, FLG, TLR9, NOD1, COL6A5, IL4R, CCL27, F2, NGFR, CD40, CCR3, IL13RA2, CCL28, IL21R, CLDN23, CX3CR1, CTLA4, CLDN1, CCL26, FCGR2A, CCL20, IL13RA1, TNFAIP6, MBL2, HNMT, MS4A2, SELP, TNF |
| Atopic eczema | IL4 |
| Atopy | FOXP3, ACE, TNF, TLR4, TGFB1, NAT2, IL1RN, IL1B, IL1A, IL10, IFNG, HLA-DQB1, HLA-DPB1, HLA-C, HLA-DRB1, IL6, MIF, IL12A, NOS2, PAFAH1B1, IL4, IL18, IL2, IL5, TLR2, RANTES |
| ATP synthase deficiency | ATP8, ATP6, ATP5A1, ATP5F1E, TMEM70 |
| ATR-X syndrome | ATRX |
| Atransferrinemia | TF |
| Atrial fibrillation | ACE2, F5, ESR1, CYP11B2, ACE, TNF, TGFB1, SERPINE1, IL1A, IL10, HSPA1L, IL6, GATA4, DUSP6, NOS3, KCNQ1, MMP9, IL18, CRP, TIMP2, MMP2, MYL4, NUP155, SCN1B, ABCC9, KCNJ2, GJA5, SCN4B, SCN5A, SCN3B, SCN2B, CD36, CD40, AGTR1, AGER, CDKN1A, EDN1, KCNE1, AGT, ANK2 |
| Atrial heart septal defect | MYH6, NKX2-5 |
| Atrial septal defect | GATA4, GATA6, ACTC1, TLL1, CITED2, TBX20, NKX2-5, MYH6 |
| Atrichia with papular lesions | HR |
| Atrioventricular septal defect | GJA1, GATA4, GATA6, CRELD1 |
| Atrophic vasa deferentia and epididymides | NR5A1 |
| Atrophy | TNF, TLR4, IL1B, VEGFA, BDNF, TGFB1, IL1RN, APOE, CXCL8, MMP7, MIF, PTGS2, PTGS1, OGG1 |
| Attention deficit disorder conduct disorder | ESR1, PENK |
| Attention deficit disorder conduct disorder oppositional defiant disorder | CD8A, OXT, SHBG, APOE, ALB, NOS3, AR, LEP, CYP19A1, OXTR |
| Attention deficit hyperactivity disorder | TPH2, DRD4, SLC6A3, DOCK3, FOXP2, MIR96, ADRA2A, TPH1, BAIAP2, DCDC2, GRM8, DBH, CALY, HTR1B, GIT1 |
| Attention deficit hyperactivity disorder (ADHD) | PIWIL4, TNF, HLA-DRB1, BDNF, COMT, IL6, GDNF, NGF, LIG4, DMRT2, BMPR1B, SEMA3A, HK1, HTR2A, CFAP43, KIF6, NTRK3, DNAJB6, SLC6A1 |
| Atypical chronic myeloid leukemia | JAK2, ASXL1, CSF3R, KRAS, RUNX1, IDH2, ETNK1, CBL, SRSF2, TET2, SETBP1 |
| Atypical hemolytic uremic syndrome | C3, CFHR1, THBD, CFH, CFB, CFHR3, CFI |
| Atypical hemolytic-uremic syndrome | ADAMTS13, CFH, CFB, THBD, CFHR1, CFI |
| Atypical sinopulmonary disease | CFTR |
| Atypical XX male | SRY |
| Au-Kline syndrome | HNRNPK |
| Auditory neuropathy | DIAPH3 |
| Auriculocondylar syndrome | GNAI3, EDN1 |
| Autism | CASP9, SLC6A14, SLC6A8, SULT2A1, CGA, ARNT2, FMR1, FSHB, FOXO1, ESR2, ESR1, CYP1B1, CYP1A1, CLOCK, BCL2, ABCB1, TNF, SRD5A2, SRD5A1, SERPINE1, PRLR, PRL, CYP11A1, IGF1, HLA-B, HLA-A, VEGFA, BDNF, COMT, HLA-C, HLA-DRB1, LEPR, MTHFR, GSTM1, GPX1, GHRL, HSD17B2, MAPK3, HSD17B4, LHCGR, LEP, NGF, ITGA4, APOE, APAF1, LHB, HSD17B3, NOS2, CYP11B1, SNRPN, AR, TSPO, SLC1A1, ADCY1, HTR2A, CNR2, NOSTRIN, NPAS2, CD46, IL1RAPL1, NTRK3, NRG1, NTRK1, IL1RN, CYP17A1, DAO, CASP3, IGF2, MTRR, PON1, WFS1, SHBG, MTR, PTGS2, PTEN, OXTR, OXT, MUC1, ERBB4, NLGN1, CYP21A2, CYP19A1, RYR3, STX1A, SLC6A1, STK39, NLGN4X, SLC9A9, SHANK2, CNTNAP2, EIF4E, MECP2, RPL10, PTCHD1, TMLHE, CHD8 |
| Autism spectrum disorder | IHH, SLC25A12, SRSF11, EIF4B, CYFIP1, MBD5, FOXP2, AHI1, CNTNAP2, AVPR1B, BCL11A, BAIAP2, CADM2 |
| autistic disorder | GABRA4, GABRA5, TNF, PECAM1, GABRB1, RPP25, RELN, GRN, VLDLR, CCL2, GABRR2, GABRB2, KDM4C, GLO1, SLC25A12, FOXP2, TPH2, SLC6A4, EN2, SETDB1, RAPGEF4, LAMB1, DISC1, KCNQ3, GRM8, CNTNAP2, KMT2E, MECP2, HRAS, NF1, PIK3CG, JARID2, GABRA2, NTRK2 |
| Autoimmune disease of the nervous system | ALDOC |
| Autoimmune diseases | F5, FCGR3A, TNF, TLR4, PDCD1, KIR2DL2, IL1B, IL10, IFNG, HSPA1B, HLA-DQB1, HLA-DQA1, HLA-B, HLA-A, TNFRSF1B, TP53, VDR, HLA-C, HLA-DRB1, IL6, IL1A, TGFB1, IL21, IL12A, STAT3, STAT4, FASLG, FAS, IL2RA, IL1RN, IL4, HLA-G, KIR2DS2, IL2, TCF7L2, PRF1, AMH, CASP8 |
| Autoimmune hemolytic anemia | CTLA4 |
| Autoimmune lymphoproliferative syndromes | CTLA4, PRKCD, CASP10 |
| autoimmune polyendocrine syndrome | AIRE |
| Autoimmune polyendocrinopathy syndrome type 1 | AIRE |
| Autoimmune thrombocytopenic purpura | MIR409, FCGR2A, CD40, CD86, MIR130A, ITGB3, FCGR2B, PTPN22 |
| Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation | PLCG2 |
| Autoinflammation lipodystrophy and dermatosis syndrome | PSMB8 |
| Autoinflammation, panniculitis, and dermatosis syndrome | OTULIN |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | RBCK1 |
| Autonomic nervous system diseases | AGTR1, GNAS |
| Autophagic vacuolar myopathy | VMA21, LAMP2 |
| Autosomal dominant hypophosphatemic rickets | FGF23 |
| Autosomal dominant mental retardation | CAMK2B, PACS1, TRIP12, DYRK1A, EPB41L1, AUTS2, SMARCA4, GRIN1, CACNG2, KIRREL3, PURA, KMT5B, GNB1, ARID1B, MEF2C, HIVEP2, DEAF1, PPP2R5D, SMARCB1, SOX11, EEF1A2, MBD5, SETD5, DOCK8, CERT1, MYT1L, RAC1, STAG1, NAA15, ZMYND11, ZBTB18, GRIN2B, ARID1A, TRIO, ASH1L, KIF1A, KAT6A, GATAD2B, CDH15, CIC, PPP2R1A, RUSC2, AHDC1, CAMK2A, KCNQ5, SETBP1 |
| Autosomal dominant neovascular inflammatory vitreoretinopathy | CAPN5 |
| Autosomal dominant nocturnal frontal lobe epilepsy | CHRNB2 |
| Autosomal dominant nonsyndromic deafness 44 | CCDC50 |
| autosomal dominant polycystic kidney disease | EDN1, GPBAR1, SERPING1, CDKN1A, FOS, ITGA8, STAT6, CFB, LRP5, PKD2 |
| Autosomal dominant sensory ataxia | RNF170 |
| Autosomal dominant striatal degeneration | PDE10A, PDE8B |
| Autosomal dominant tubulointerstitial kidney disease | UMOD, SEC61A1 |
| Autosomal recessive congenital ichthyosis | SULT2B1, ABCA12, TGM1, CYP4F22, ALOXE3, CERS3, ALOX12B, NIPAL4, ST14, PNPLA1 |
| Autosomal recessive congenital ichthyosis 1 | ALOXE3, ABCA12, ABHD5, TGM1 |
| Autosomal recessive cutis laxa type III | ALDH18A1 |
| Autosomal recessive hypophosphatemic rickets | ENPP1 |
| autosomal recessive limb-girdle muscular dystrophy type 2D | SGCA, DAG1 |
| autosomal recessive limb-girdle muscular dystrophy type 2E | SGCB |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | FKRP |
| autosomal recessive limb-girdle muscular dystrophy type 2L | FKTN |
| Autosomal recessive mental retardation | CRBN, IMPA1, ZC3H14, NSUN2, ANK3, ELP2, LMAN2L, WASHC4, TAF13, PGAP1, PRSS12, MED23, TECR, GPT2, NDST1, PUS3, TNIK, LINS1, EDC3, TAF2, METTL23, HNMT, PIGG, TTI2, ADAT3, KPTN, FBXO31, HERC2, GRIK2, FMN2, MBOAT7, TRAPPC9, CC2D1A, CRADD, SLC6A17 |
| Autosomal recessive mental retardation-42 | PGAP1 |
| Autosomal recessive microcephaly and chorioretinopathy | PLK4, TUBGCP4, TUBGCP6 |
| Autosomal recessive neuromyotonia and axonal neuropathy | HINT1 |
| Autosomal recessive nonsyndromic deafness 4 | SLC26A4 |
| Autosomal recessive nonsyndromic deafness 66 | DCDC2 |
| Autosomal recessive nonsyndromic deafness 9 | OTOF |
| Autosomal recessive peripheral neuropathy | MCM3AP |
| Autosomal recessive progressive external ophthalmoplegia | DGUOK, TK2, RNASEH1 |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay | SACS |
| Autosomal recessive spinocerebellar ataxias | COQ8A, CWF19L1, SNX14, VWA3B, SETX, STUB1, SLC9A1, TDP1, PMPCA, ATG5, SPTBN2, VPS13D, TPP1, UBA5, TDP2, RUBCN, SCYL1, GRID2, SYNE1, ANO10, WWOX, SYT14, GRM1 |
| Avascular necrosis of femoral head | ABCB1, SERPINE1, VEGFA, NOS3, COL2A1 |
| Avascular osteonecrosis | SERPINE1 |
| Axenfeld-Rieger syndrome | FOXC1, PITX2 |
| Axial spondyloarthropathy | KIR2DL2, HLA-B, HLA-A, HLA-C, KIR2DS2 |
| Axoneme function | TCTE1 |
| Azooligozoospermia | TP53 |
| Azoooligozoospermia | KITLG |
| Azoopsermia | MAN1B1, DPP6, GANAB, HO-1, BIRC5, CACNA2D1 |
| Azoospermia | LIPE, USP26, TSSK4, ESR2, CFTR, BCL2, AHR, CAMK4, ACE, IL1B, HLA-DRA, HLA-DQB1, FASLG, FAS, HLA-DRB1, TNP2, SBF1, AR, DAZ2, KDM3A, SPANXA2, TEX14, PPP1CC, BRCA1, RB1, NANOS1, ESR1, DAZ1, DAO, BAX, POLG, PGR, INSL3, IL10, HLA-B, HLA-A, FSHR, FSHB, FKBP6, FAM12B, MTHFR, PRL, GAA, GANAB, GJA1, GSTM1, GSTP1, GSTT1, MEFV, KITLG, HSD17B4, TIMP2, PRDM9, ZMYND15, DPP6, YBX2, NOS2, SEPTIN12, SLC6A20, TSPY1, LHB, AMH, RXFP2, SYCP3, DAZ4, NOS3, DDX3Y, DAX1, NOS1, KIT, CDY1, KCNK9, LTF, CD68, AHRR, MLH1, BPY2, MMP12, HMGB2, ALB, B2M, PLAU, LAMB1, CDC20, DAZL, BIRC5, PIP, RBMY1A1, SPAG11B, SPAG11A, BOLL, CREB1, MYRIP, CREM, KATNAL1, TSPYL1, HNRNPL, ACPP, KLK3, IZUMO1, ESX1, CCNA1, SHBG, NOSTRIN, CYP17A1, MIR374B, MIR509-1, ADM, RNF212, INHBA, TF, EPPIN, GNRH1, IFNA1, MIR146B, NR5A1, LIMK2, HSD17B2, H2AX, MTHFD1, CYP1A1, XPD, CYP1B1, WIPF3, WASL, XPC, XRCC1, TBPL1, RAP1A, PIWIL1, OXT, REC8, PARP2, PRDX4, OGA, MAN1B1, LMTK2, UBR2, PATZ1, SIN3A, MLH3, PCDH17, DROSHA, DDX25, SPANXA1, KCNK4, MOV10L1, VASA, TEX11, CYP26B1, MUC1 |
| Azoospermia and testicular meiotic arrest | MEIOB |
| Azoospermia by meiotic arrest | PRDM9 |
| Azoospermia caused by meiotic arrest and sertoli cell syndrome | RAD21L1 |
| Azoospermia of primary testicular failure | HGF, TGFB1 |
| Azoospermia or oligozoospermia | BRCA2, AR, MLH1 |
| Azoospermia, Globozoospermia | KCNK9, RB1 |
| Azoospermia, Male infertility | Prx4, ZNF313 |
| Azoospermia, meiotic arrest | PARP-2 |
| Azoospermia, Oligozoospermia | LOC203413, LSM5, GALR1, SPANX, SALL4, LRFN2, SRY, ARL6 |
| Azoospermia, Recurrent miscarriages | DPP6 |
| Azoospermia or severe oligozoospermia | FASLG |
| Azoospermic men with congenital bilateral aplasia of epididymis or vas deferens | CFTR |
| Azoospermic men with congenital bilateral aplasia of epididymis or vas deferens | CFTR |
| Azoospermic patients with Klinefelter's syndrome | USP9Y |
| B lymphoblastic leukemia | MYC |
| B- and T-cell mixed leukemia | DOT1L |
| B-cell acute lymphoblastic leukemia | TCF3, RUNX1, CRLF2, PAX5, KMT2A, AFF1, PBX1, ABL1 |
| B-cell lymphoma | CD40, BCL6, IL21R, ABCG2 |
| Bainbridge-Ropers syndrome | ASXL3 |
| Balkan nephropathy | GSTT1, GSTM1, TP53 |
| Baller-Gerold syndrome | RECQL4 |
| Bamforth-Lazarus syndrome | FOXE1 |
| Baraitser-Winter syndrome | ACTG1 |
| Baraitser-Winter syndrome 1 | ACTB |
| Bardet-Biedl syndrome | IFT27, IFT74, BBS2, BBS5, LZTFL1, MKKS, BBS12, BBS9, TTC8, ARL6, TRIM32, BBS4, SDCCAG8, BBIP1, CEP290, C8orf37, BBS1, TMEM67 |
| Bare lymphocyte syndrome type1 | TAP1, TAP2, TAPBP |
| Bare lymphocyte syndrome type2 | RFX5, RFXAP, CIITA, RFXANK |
| Barrett esophagus | CTHRC1, ASCC1 |
| Barrett's adenocarcinoma | CYP26A1 |
| Barrett's esophagus | IL10, HLA-B, IL6, CXCL8, GSTP1, IL2, OGG1, CDKN2A, MKI67, MIR223, MUC2, CDKN1A, BECN1, CDX2, B3GAT2, FOXP1 |
| Barth syndrome | TAZ |
| Bartter syndrome | CLCNKA, CLCNKB, MAGED2, KCNJ1 |
| Basal cell carcinoma | SHH, TP53, SMO, PTCH1, XRCC5, RPE65, XRCC6, RASA1, BAP1, OCA2, CRNKL1, CTLA4 |
| Basal cell nevus syndrome | PTCH2, SUFU, PTCH1 |
| basal ganglia disease | FTL |
| Basal ganglia diseases | VEGFA |
| Basal laminar drusen | CFH |
| Basan syndrome | SMARCAD1 |
| Batten disease | CLN3 |
| Beaulieu-Boycott-Innes syndrome | THOC6 |
| Becker muscular dystrophy | DMD |
| Beckwith-Wiedemann syndrome | IGF2, KCNQ1OT1, H19, NSD1, CDKN1C |
| Behcet disease | IL23R, IL12RB2 |
| Behcet's disease | MMP9, F5, CYP1A1, ACE, TNF, TLR4, SOD2, SERPINE1, NAT2, KIR2DL2, IL1B, IL10, IFNG, ICAM1, HLA-DQB1, HLA-B, TNFRSF1B, FCGR3A, HLA-C, HLA-DRB1, IL6, MTHFR, VEGFA, HLA-A, IL1A, MEFV, HLA-E, LEP, KIR2DS2, APOE, IL6R, IL1R2, IFNAR2, IFNA1, STAT4, NOS2, NOS3, CXCL8, IL1RN, CCL5, CCR5, GSTT1, GSTM1, HLA-G, DDR1, TGFB1, TLR2, IL18, NFKB1, EDN1, MBL2, ADIPOQ, CCL2, TLR3, CFB, PROZ, IL21R, NOD2, SLC11A1, IKBKG, CTLA4, IL23R, ITGA2, PTPN22 |
| Benign familial hematuria | COL4A3, COL4A4 |
| Benign familial infantile seizure | PRRT2, SCN2A, SCN8A |
| Benign familial neonatal epilepsy | SCN2A |
| Benign familial neonatal seizure | KCNQ3, KCNQ2 |
| Benign hereditary chorea | TTF1 |
| Benign neonatal seizures | KCNQ3, ATP1A2 |
| Benign recurrent intrahepatic cholestasis | ATP8B1, ABCB11 |
| benign recurrent intrahepatic cholestasis 1 | ATP8B1 |
| Benign ovarian cysts | TNF, INHA |
| Bernard-Soulier syndrome | GP1BB, GP9, GP1BA |
| Beryllium disease | HLA-DQB1, HLA-DRB1, HLA-DPB1 |
| Beta thalassemia | HAMP, CFB, HP, BCL11A, GATA1, HBB, HBS1L, TNF |
| beta-Mannosidosis | MANBA |
| Beta-thalassemia | HFE, ESR1, COL1A1, TNF, VDR, F5, HLA-C, MTHFR, APOE, NOS2, GSTT1, GSTM1, G6PD |
| Beta-ureidopropionase deficiency | UPB1 |
| Bethlem myopathy | COL6A1, COL6A2, COL6A3 |
| Beukes hip dysplasia | UFSP2 |
| Bicuspid aortic valve | NOTCH1, SMAD6 |
| Bifid nose with or without anorectal and renal anomalies | FREM1 |
| Bifid scrotum | SRY |
| Bifid scrotum and Hypospadias | AR |
| Big scrotal folds | NR5A1 |
| Bilateral agenesis of the vas deferens | CFTR |
| Bilateral congenital ductus deferens aplasia | CFTR |
| Bilateral cryptorchidism | WT1, CYP11B1, AMH, AMHR2, INSL3, AR, SRD5A2, RXFP2 |
| Bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles | CFTR |
| Bilateral macronodular adrenal hyperplasia | PRKACA, MC2R, ARMC5, MEN1, APC, PDE11A, FH |
| Bilateral sudden sensorineural hearing loss | TECTA, ACTG1, TMPRSS3, KCNQ4, CDH23, COCH |
| Bilateral congenital absence of the vas deferens (CAVD) | CFTR |
| Bilateral cryptorchidism | CYP11B1, AMHR2, WT1 |
| Bilateral testicular hypertrophy | CYP11B2 |
| Bile duct adenoma | BRAF |
| bile duct cancer | TJP1 |
| bile duct carcinoma | MSLN |
| Biliary atresia | IL1B, IL10, HLA-DQB1, HLA-DQA1, HLA-DPB1, HLA-DRB1, MIF, HLA-A, IL1A, ICAM1, CCR5, HLA-B, GGT1, ADIPOQ, SPINT2, GLI2, SPINT1, SPP1 |
| Biliary cirrhosis | CFTR, IL1B, TNF, VDR, IL12A, HLA-DRB1, HLA-B, IL1RN, GSTT1, GSTM1, IGF1, NFKB1 |
| biliary tract benign neoplasm | CTPS1, MUC4, MTAP |
| biliary tract cancer | PPARD |
| Biliary tract disease | FGF2 |
| Biotin-responsive basal ganglia disease | SLC19A3 |
| Biotinidase deficiency | BTD |
| Bipolar disorder | ADM, HSPA4, ESR1, CLOCK, SOD2, ESR2, IL1B, HLA-DQB1, TNF, BDNF, COMT, HLA-DRB1, FYN, BZRP, MTHFR, MTHFD1, MMP9, ARNT2, WFS1, KIT, DUSP6, NOS3, MSI2, RFX4, PLCG1, HTR2A, PHB, VAMP2, SLC18A1, PENK, NPAS2, TDRD9, NRG1, HSP90AA2P, ACE, AKT1, DAO, GSK3B, GABBR2, HLA-B, IL1RN, NCAM1, MTR, ADCYAP1, OTX2, NR3C1, BRWD1, TNFRSF11B, GRK3, GRN, IMPA2, TPH2, NDUFS7, RAP1GAP, CHRM2, RELN, L1CAM, SRSF3, SNCA, NTRK2, ADIPOQ, GAD1, PPP1R1B, DISC1, CCL2, SSTR5, SYNE1, DDC, MT-ND1, ATP1A3, BRD1, GRIN2B, GABRA5, GCH1, GABRA3, HTR2C, GRIN2A, MBL2, KAT6B, AVPR1B |
| Bird fancier's lung | TNF |
| Birk-Barel mental retardation syndrome | KCNK9 |
| Birt-Hogg-Dube syndrome | FLCN |
| Bjornstad syndrome | BCS1L |
| Bladder cancer | DAPK1, HRAS, TP53 |
| Bladder disease | CHRM3 |
| bladder urothelial carcinoma | ACTL7A |
| Blau syndrome | NOD2 |
| Bleeding disorder platelet-type | GP6, RASGRP2, P2RY12, ITGA2, TBXA2R, FLI1 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | FOXL2 |
| Blepharophimosis-mental retardation syndrome | MED12, KAT6B |
| Blepharophimosis-ptosis-epicanthus inversus syndrome | FOXL2 |
| Blindness | AIPL1 |
| Blindness optic atrophy | MTHFR |
| Bloch-Sulzberger syndrome | IKBKG |
| Blocking implantation | IL11, LIF |
| Blomstrand syndrome | PTH1R |
| Blood coagulation disorders | IL1B, IL6, F5, MTHFR, NOS3, TDRP |
| blood platelet disease | TBXA2R, CD36 |
| Blood pressure | ADM, DCN, CFTR, SEMA3A, ELANE, CAMK4, MMP12, GNAS, GSTP1, NDRG2, CCR5, MEF2A, NR3C1, TRH, CDC7, DNAH5 |
| Bloom syndrome | BLM |
| Bohring-Opitz syndrome | ASXL1 |
| Bone disease | FGF2, EPHX1, TNFRSF11A, FLNB |
| Bone diseases | ESR1, EGF, CYP1B1, CYP1A2, CYP1A1, COL1A1, CFTR, BMPR2, ABCB1, TGFBR3, TGFB3, SERPINE1, PPARG, DCN, IL1B, IL10, HSPA1L, HSD3B2, TNFRSF1A, TNFRSF1B, TNFSF10, VDR, COMT, IL6, LEPR, TNF, TLR4, BCL2, F5, FST, FLT1, FGFR3, FGFR2, FGFR1, FGF3, BDNF, ESR2, FSHR, LIF, LHCGR, LEP, IGF1R, IGFALS, KDR, APOE, IL6R, IGF2R, IGF2, HSD17B2, HSD17B1, IL1R2, SHH, KIT, PROP1, SOX5, XPC, XPA, EGFR, BMP4, SOX9, CYP11B1, TERT, HSD17B4, LHB, NOS3, CSF1, CASP3, IL6ST, SPAG16, MEF2A, MAPK3, MAPK14, ADCY10, HNF1A, KISS1R, IFNAR2, DLK1, TRH, SRC, BMP7, MIF, NR5A2, DECR1, NTRK1, IL1A, MTHFR, SRD5A1, AKT1, BAX, CAT, CYP17A1, FAS, HSD3B1, ICAM1, GNRH1, GH1, GC, GSTM1, GSTT1, GSK3B, GNRHR, GNRH2, GNAS, GBA, GHRL, GSTP1, IGF1, IL1RN, IL4, CYP11A1, CYP24A1, E2F1, NCOA2, PON1, TGFB1, VEGFA, IL2, PON2, PLAU, MTR, ERCC2, ERCC1, CYP21A2, CYP19A1, CTNNB1, SHBG, TP53, STAT1, HSD17B3, AR, CASP8, SULT1E1, BGLAP, MMP9, NR3C1, HSPA2 |
| Boomerang dysplasia | FLNB |
| Borjeson-Forssman-Lehmann syndrome | PHF6 |
| Bosch-Boonstra optic atrophy syndrome | NR2F1 |
| Boucher-Neuhauser syndrome | PNPLA6 |
| Bowen-Conradi syndrome | EMG1 |
| Brachial plexus neuritis | SEPTIN9 |
| Brachydactylies | FGF9 |
| Brachydactyly | BMPR1B, HOXD13, PDE3A, PTHLH, BMP2, IHH, ROR2, GDF5, SLC26A2 |
| Brachydactyly-mental retardation syndrome | HDAC4 |
| Brachydactyly-syndactyly syndrome | HOXD13 |
| Brachyolmia | TRPV4, PAPSS2 |
| Bradyopsia | RGS9, RGS9BP |
| Brain aneurysm | SERPINA3, TIMP2, NOS3, TIMP1, MMP9 |
| Brain disease | S100B, ENO2, PPP2R2B, RANBP2 |
| Brain edema | IL1B, APOE, AQP4, IL1RN, SERPINF1 |
| brain glioblastoma multiforme | MIR139 |
| Brain hypoxia | IL10 |
| Brain infarction | CBS, HLA-DQA1, HLA-DRB1, IL6, TLR4, NOS2, NOS3, CRP, TP53, AIF1, IL15, CFH, ALOX5AP, ALDH2 |
| Brain injuries | COMT, IL1B, BDNF, IL1A, BCL2, TP53 |
| Brain ischemia | ALOX15, CBS, APOB, SERPINE1, PLAT, VDR, VWF, IL6, PPARG, TNF, IL1B, IL10, TLR4, APOE, IL18, IGF1R, ITGB1, NOS2, CDKN2A, NOS3, CXCL8, CALM1, SLC26A8, TF, MMP9, ADAMTS1, KCNK17, IL1A, ACE, F3, GH1, ICAM1, IGFBP3, IL1RN, IL4, MTHFR, PON1, TGFB1, GC, GSTT1, GSTM1, CYP17A1, PTGS2, PTGS1, PON2, EPHX2, CRP, CCR5, C3, AR, CX3CL1, ABCC1, KIF6, BTG2, MDK, ANXA1, CSF3, FGF1, ANGPT1, PROZ |
| Brain neoplasms | EME1, CHEK1 |
| Brain small vessel disease with hemorrhage | COL4A1 |
| Brain stem glioma | PDGFRA |
| Brain-lung-thyroid syndrome | NKX2-1 |
| Branchio-oto-renal syndrome | SIX1, EYA1, SIX5 |
| Branchiooculofacial syndrome | TFAP2A |
| Branchiootorenal syndrome | SIX1, EYA1 |
| Breast adenocarcinoma | TNF, CCNE1 |
| Breast cancer | NOTCH1, CCND1, FZD7, LRP6, NOTCH4, ESR1, TP53, TFRC, PTGES3, ANTXR1, REL, RELB, CDH13, MAP2K3, RHOC, KMT2B, BARD1, MKI67, ADSL, CCNE1, KDM4B, CDKN1B, EGR1, XIAP, ANXA7, IGFBP1, THRA, FANCD2, CCR6, DUSP1, TSC2, PMEPA1, CFB, TERC, UROD, PLPP4, LETMD1, SPINT1, EPOR, PRAME, AGT, MAPK15, BCAS3, SRSF5, CTSB, TLR9, KMT2D, CSNK2A1, CD55, BTG2, SNCG, TSG101, MMP8, KLK4, SIX1, FGF2, MAP3K1, F7, TIMP3, ADIPOQ, NME1, F11R, PDGFA, CAV1, CHI3L1, BAG1, WNT7B, GHR, KMT2E, IGFBP6, SKP2, CTLA4, TSC1, TNF, KDM8, TK1, WRAP53, WNT9A, BCAR1, MAP2K1, PDGFRB, NCOR2, NQO1, WNT3, FEN1, BMP6, KDM4A, ACSL3, L3MBTL1, KAT2B, AGR2, AIF1L, TUT4, MAP2K2, KAT5, EPO, CSF1R, KDM3B, ASF1B, LNPEP, KDM5A, WIF1, CASP7, RNF20, BCL2L1, GRB2, IL13RA2, BIK, BIRC2, AREG, CBX7, KDM5B, ENG, NOD2, EIF3H, EBAG9, SHMT1, ADIPOR1, LTA, ALOX5AP, MCPH1, SNW1, BRIP1, KRAS, AGTR1, PPP2R2B, BCAS2, RB1CC1, PSEN2, IKBKB, PTK2B, FANCA, CYB5R3, MANF, NCOA6, KAT6B, FANCC, KDM4C |
| Breast carcinoma | AMACR, MTUS1, NCOA1, BCL2L1, ENO2, CD59, EP300, ATP7B, PDGFRA, ZFHX3, TERC, MMP14, CBX7, SMAD2, PDGFRB, MSH6, BRIP1, FZD2, PARL, NCOA3, FZD1, ABCG2, TIMP3, RRM2, SNW1, MDC1, KLK6, CDC25B, PLK3, CAV1, MRE11, AFDN, ESR1, FGF2, NME1, BCL2L10, PLK1, CA9, KDM6B, CDH13, VEGFC, TFRC, NQO2, CXCL12, THOC5, BIN1, TSG101 |
| Breast diseases | IGF1 |
| breast ductal carcinoma | TNFRSF10A, EBAG9, XIAP, BCAR1 |
| Breast fibroadenoma | WNT7B |
| Brill-Symmers disease | CYP1B1, CYP1A2, CYP1A1, NAT2, VDR, TNF, IL10, IL12A, XRCC1, FCGR3A, IL4, GSTT1, GSTP1, GSTM1, ERCC2, CYP21A2 |
| Brittle cornea syndrome | PRDM5, ZNF469 |
| Brody myopathy | ATP2A1 |
| Bronchial hyperreactivity | SOD2, IL4, IFNG, COMT, TNF, EGFR, EDNRA, FLT1, FGFR2, FGFR1, TGFBR3, TLR2 |
| Bronchiectasis | CFTR, SERPINA1, IFNG, HLA-DQB1, HLA-DQA1, HLA-DRB1, HLA-A, MMP9, HLA-B, TLR2, MBL2, TNF, TAP1 |
| Bronchiectasis with or without elevated sweat chloride | SCNN1G, SCNN1A, SCNN1B |
| Bronchiolitis | IFNG, IL6, TNF, IL10, TGFB1 |
| Bronchiolitis obliterans | SFTPD, CCL22, CXCL11, CCL17, GZMB, IL13, CXCL10, EDN1, NOD2, TLR9, MBL2 |
| bronchiolo-alveolar adenocarcinoma | CCND1, EGR1 |
| Bronchitis | IL6, TNF, IL10 |
| Bronchopulmonary dysplasia | IL10, TNF, MMP2, SERPINE1, ACE, IL4, MTHFR, TGFB1, VEGFA, IGF1, GSTP1, PLAU |
| Brooke-Spiegler syndrome | CYLD |
| Brown-Vialetto-Van Laere syndrome | SLC52A3, SLC52A2 |
| Bruck syndrome | FKBP10, PLOD2 |
| Brugada syndrome | HLA-DQB1, HLA-DRB1, KCND3, CACNA1C, SCN1B, GPD1L, HCN4, SCN5A, CACNB2, KCNE3, SCN3B |
| Budd-Chiari syndrome | SERPINE1, F5, MTHFR, JAK2 |
| Buerger's disease | NOS3, MTHFR |
| Bulbar-onset motor neuron disease | APOE |
| Bulimia | INSR, IL6, LEPR, IL1B, PPARG, COMT, LEP, IGF1, IGF2, VIM, CALM1, CREB1, CNR2, SLC18A1, OXT, BDNF, ESR2, GHRL, GSK3B, GNAS, GNAI1, MAPK1, TRH |
| Bullous congenital ichthyosiform erythroderma | KRT1, KRT10 |
| Bullous pemphigoid | IFNG, IL6, IL10, IL1B, TNF, HLA-DRB1, CXCL8, IL1A, FCGR3A, IL1RN, IL4, HLA-DQA1, F2, CCL26 |
| Burkitt lymphoma | CDKN2A, MYC, ERCC2, TP53, CD40 |
| Burn-McKeown syndrome | TXNL4A |
| Buschke-Ollendorff syndrome | LEMD3, ELN |
| Byssinosis | TNF |
| C syndrome | CD96 |
| Cachexia | IL6, IL10, IL1B, TNF, IL1RN, ACE |
| CAGSSS syndrome | IARS2 |
| Calcification of joints and arteries | NT5E |
| Calcinosis | SPINK1, HFE, APOB, HLA-DQB1, HLA-DQA1, VDR, HLA-DRB1, PPARG, APOE, CDKN2A, BMP4, NOS3, SLC2A1, BMP7, ACE, GC, GPX1, EPHX2, CYP24A1, TCF7L2, SPP1, MGP |
| Calcium metabolism disorders | VDR |
| Calcium nephrolithiasis | VDR |
| Calcium oxalate nephrolithiasis | SLC26A1 |
| Calcium oxalate stone disease | VDR |
| Calpainopathy | CAPN3 |
| Calvarial doughnut lesions with bone fragility | SGMS2 |
| Campomelic dysplasia | SOX9 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | PRG4 |
| Camurati-Engelmann disease | TGFB1 |
| Can predict poor sperm quality | MAPK14, MAPK3 |
| Canavan disease | ASPA |
| Cancer | ABCA1, HSPA5, TYK2, AKR1C3, ALOX15, APAF1, HFE, CYP2B6, CYP1B1, CYP1A1, COL1A1, CFTR, CASP9, APOB, APOA1, AGTR1, CBS, ABCB1, AHR, SPINK1, SOD2, SERPINA1, SLC19A1, PGR, PDCD1, NAT2, EGF, ARG2, INSR, INHA, IFNG, HSPA1L, HSPA1B, HSPA1A, HLA-DQB1, HLA-DQA1, TNFRSF1A, TNFRSF1B, HLA-C, HLA-DRB1, LEPR, NBN, ATP5A1, DNMT3B, AURKA, B2M, VDR, IL6, BGLAP, BIRC5, COMT, HLA-A, IL10, APEX1, HSD3B2, ATM, MTHFD1, MSH5, GSR, H2AX, HDAC1, HGF, HIF1A, HLA-DPB1, HNF1A, HNF1B, MDM2, HSD3B1, HSF1, IDH1, IFNA1, IFNAR2, LHCGR, LEP, AMHR2, ATP6, CYTB, PTGS1, MT-CO1, PTGDS, IGFBP3, IL17A, IL17RB, KDR, GSTM1, APOE, IL6R, IL2, IL18, INHBB, INSL3, IL12A, ITGA4, ITGA6, ITGAV, JUN, KISS1, KLK3, IGFALS, IGF2R, IGF1R, IGF1, LAMA1, LGALS1, LGALS3BP, HSD17B2, HLA-E, LMTK2, LPO, MAPK1, MAPK8, MBD1, TCF7L2, STAT1, TOP2A, TP73, TXN, SHBG, SPRY4, IGF2, LIG4, TIMP2, STAT3, IL1R2, H19, SRD5A2, KIT, SDHB, PIK3CA, KITLG, DPP6, DICER1, WT1, XPA, XPC, DNAH11, DYNC2H1, ERBB2, CTNNB1, BCL2, PTEN, CDKN2A, EGFR, MYC, ZNF230, CYP11B1, ATP8, RAG1, XRCC1, LHB, |
| Cancer (Adenocarcinoma) | HFE, CYP1B1, CFTR, ABCB1, SLC19A1, NAT2, CYP1A1, HLA-DQA1, HLA-DRB1, LEPR, NBN, IFNG, SOD2, COMT, IL6, CBS, HLA-A, IL10, EGF, MTHFD1, IL18, IL12A, APEX1, IGF2R, IGF1R, IGF1, PIK3CA, NOS2, ERCC1, PTEN, EGFR, CDKN2A, BRCA2, BRCA1, IGF2, XRCC1, XPC, XPA, CASP3, CASP8, OGG1, ATR, MSH2, MMP12, MLH1, MGMT, BIRC5, BAT3, CASP6, USP1, IL1B, TNF, IL1A, F5, CASP9, IL4, MTHFR, IL1RN, PPARG, TGFB1, TLR4, VEGFA, HLA-B, FASLG, FAS, AKT1, PTGS2, ATM, MTRR, MTR, MDM2, GSTM1, GSTP1, GSTT1, GH1, ERCC2, ACE, CYP19A1, CYP17A1, CDH1, TP53, AR, CXCL8, LIG4, TERT, CASP1, ABCC1, MMP2, CASP4 |
| Cancer (Adenoma) | CYP1B1, CYP1A2, NAT2, LEPR, VDR, IL6, CYP1A1, IL10, HFE, APOE, APEX1, IGF1, IGF1R, PIK3CA, ERCC2, XRCC1, BRCA1, OGG1, MTHFR, DNMT3B, PPARG, TGFB1, PTGS2, NFE2L2, MTR, GSTT1, GSTM1, GPX4, GPX1, GNAS, GSTP1, GH1, CYP21A2, PTGS1, CRP, TP53, NR3C1, MSH2, IDH1 |
| Cancer (adenomacarcinoma) | TP53 |
| Cancer (Adenosarcoma) | TP53 |
| Cancer (Aerodigestive tract) | CYP1A1, APEX1, XPA, MGMT, GSTT1, GSTM1, OGG1 |
| Cancer (anus) | TP53 |
| Cancer (B cell chronic lymphocytic leukaemia) | BAX |
| Cancer (B-Cell lymphomas) | HLA-C, HLA-DRB1, HLA-A, IL10, TNF, TGFB1, FCGR3A, HLA-B |
| Cancer (B-cell non-Hodgkin's lymphoma) | TP53 |
| Cancer (barrett's esophagus esophageal cancer) | SOD2, GSTP1 |
| Cancer (basal cell) | IL6, VDR, IL10, CYP1A1, CDKN2A, BRCA2, ERCC2, XRCC1, XPA, MMP9, IL1B, TNF, CAT, TLR4, FGFR2, FASLG, FAS, PTGS2, GSTT1, GSTP1, GSTM1, GPX1, PARP1, TP53, BRCA1, TERT |
| Cancer (benign prostatic hyperplasia) | VDR, AR |
| Cancer (Bile duct neoplasms) | CDKN2A |
| Cancer (Biliary tract neoplasms) | IL6, SOD2, IL5, EGFR, ERCC1, XRCC1, NOS3, RAD23B, APEX1, MGMT, IL1B, IL10, IL1A, IL4, PPARG, TNF, VEGFA, TGFB1, CXCL8, ERCC2 |
| Cancer (bladder) | CYP1B1, CYP1A2, APOB, ABCB1, SLC19A1, NAT2, INSR, TNFRSF1A, LEPR, NBN, IFNG, COMT, IL6, AHR, PGR, VDR, HSD3B2, LEP, APOE, IL6R, IL2, IL12A, IGF2R, IGF1, HSD3B1, TLR2, SHBG, PLA2G2A, H19, MDM2, NOS2, CTNNB1, ERBB2, PTEN, MYC, IGF1R, EGFR, CDKN2A, BRCA2, STAT1, IGF2, RAG1, XPC, XRCC1, SOD1, LIG4, TSPO, SLC2A1, CASP3, RAD51, RXRB, STK11, ALS2CR12, TERF2, PHB, TERF1, POLD3, APEX1, HSD17B4, TEP1, RAD23B, POLQ, CGA, MUC5B, MSH2, MPG, MLH3, MLH1, MEST, MBD2, EZR, IFNAR2, H2AX, CDC25C, CCNA2, FGFR3, IL1B, IL10, HFE, CAT, CCL5, CYP1A1, EGF, ESR1, GSTM3, HMOX1, ICAM1, IL1A, IL4, CBS, MTHFR, PON1, RB1, SOD2, TLR4, TNF, VEGFA, IL1RN, PPARG, POLG, ESR2, FAS, FASLG, PTGS2, BAX, ATM, MTRR, MTR, GSTT1, GSTP1, GSTM1, GPX1, GNAS, GDF15, GSK3B, GPX4, GC, AKT1, AKR1C3, EPHX2, PCNA, ACE, PARP1, CYP24A1, CYP19A1, CYP17A1, CRP, CDH1, CCR5, PLA2G6, PLAU, PMS2, PTGS1, TP53, TGFB1, HSD17B1, NOS3, BRCA1, XPA, AR, ZNF230, MYBL2, CXCL8, ERCC1, ERCC2, CASP9, CHEK1, TERT, CASP8, OGG1, SULT1A1, MGMT, MMP12, MMP2, MMP9, MMP7, BAK1, CDC25A, R |
| Cancer (brain) | CYP1B1, ABCB1, NAT2, HLA-DQB1, HLA-DRB1, NBN, HLA-C, IL6, HLA-A, HLA-B, KDR, IGF1, IGF2R, ATM, NOS2, CTNNB1, MDM2, ERBB2, PTEN, EGFR, CDKN2A, IGF1R, SOD1, ERCC2, APEX1, LIG4, LPO, IDH1, CAT, CYP1A1, EGF, GSTM3, IL4, MTHFR, PON1, SOD2, CBS, PTGS2, MTRR, MTR, GSTP1, GSTM1, GSTT1, GPX1, PARP1, TP53, IGF2, NOS3, XRCC1, PCNA, XDH, BRCA1, BRCA2, XPC, ERCC1, TERT, CASP8, SULT1A1, OGG1, RAD23B, MGMT, MMP7, MMP9, MSH2 |
| Cancer (breast) | CYP1B1, CYP1A2, ABCB1, SLC19A1, NAT2, INSR, INHA, HLA-DQB1, HLA-DQA1, TNFRSF1A, TNFRSF1B, HLA-DRB1, LEPR, NBN, HLA-C, IFNG, COMT, IL6, PGR, VDR, HLA-A, MTA1, KIF2C, SLC2A1, MED1, PLK4, PRKCA, RANBP1, RAD51, STK11, TEX14, VCP, SPAG5, PIK3CB, TERF2, KPNB1, PHB, TERF1, SNAI1, POU1F1, SMYD3, IL5, IL2, IL18, IL12A, KDR, IGF1, HSD3B2, HLA-B, TLR2, TGFB1, TCF7L2, SHBG, STAT3, TIMP2, IGF2R, H19, CD44, ATM, PIK3CA, KITLG, PMS2, TOP2A, AURKC, CTNNB1, MDM2, BCL2, ERBB2, SRD5A2, MYC, EGFR, CDKN2A, CYP11B1, IGF1R, CYP24A1, IL17A, BRCA2, SOD1, INHBA, PTEN, CHDH, FANCM, GSTM3, GMNN, TP53, NOS2, CCND2, CTCF, EME1, CDC25A, APOE, PCNA, SERPINE1, PDS, AHR, CAT, CYP11B2, CYP1A1, EGF, ESR1, HFE, HMOX1, ICAM1, IL10, IL1A, IL1B, IL4, CYP2B6, DCN, NCOA2, PON1, SOD2, TLR4, TNF, VEGFA, MTHFR, F5, IL1RN, PPARG, FAS, FASLG, FGFR2, PTGS2, FN1, FGFR1, FCGR3A, PRL, FSHR, FSHB, PON2, NFE2L2, MTRR, MTR, MTHFD1, LHCGR, LEP, CYTB, HIF1A, GSTT1, GSTP1, GSTM1, GPX1, GH1, GC, GHRL, GNAS, GPX4, GSR, GSK3B, GNRHR, GNRH1, AKT1, ESR2, DNMT3B, ACE, CY |
| Cancer (Burkitt lymphoma) | ERCC2, MTHFR, XRCC1 |
| Cancer (Cell) | NAT2 |
| Cancer (Central nervous system) | APOE, CCL5, IL10, IL4, MTHFR, F5, MTR, CBS |
| Cancer (Cerebellar) | GSTT1, GSTM1, TP53 |
| Cancer (cervical) | PDCD1, NAT2, HLA-DQB1, HLA-DQA1, HLA-DRB1, HLA-C, IFNG, IL6, COMT, APOE, IL18, IL12A, HLA-B, TLR2, TGFB1, NOS2, CDH1, MDM2, ERBB2, EGFR, PARP1, PCNA, BRCA1, BRCA2, MMP9, MMP7, BCL2, HLA-A, BDNF, HFE, HLA-G, IL10, IL1A, IL1B, KIR2DL2, CYP1A1, EGF, SOD2, TLR4, TNF, VEGFA, IL1RN, MTHFR, PTGS2, FASLG, FAS, MTRR, MTR, GSTM1, GSTT1, GSTP1, GPX1, KDR, CCR5, TP53, NOS3, STAT1, XRCC1, XPC, TERT, CXCL8, APEX1, OGG1, LIG4, HLA-DPB1, BIRC5, MGMT, MMP2 |
| Cancer (cholangiocarcinoma) | CYP1A2, PDCD1, NAT2, IL18, MTHFR, TP53 |
| Cancer (chondrosarcoma) | MTHFR |
| Cancer (choroid plexus) | MDM2, TP53 |
| Cancer (chronic B-cell leukemias) | HLA-DRB1, BAX, MDM2, TNF, MTHFR, GSTT1, GSTP1, GSTM1, TP53, MGMT |
| Cancer (Chronic Lymphocytic Leukemia) | APOE, KRT1, MDM2, BRCA2, FCGR3A, TP53 |
| Cancer (colon) | CYP1A2, CFTR, NAT2, LEPR, IL6, LEP, APOE, FRAP1, IGF1, TCF7L2, PIK3CA, PTEN, EGFR, IGF1R, CXCL8, ACP1, VDR, ESR1, HFE, IL10, IL1B, VEGFA, CYP1A1, IL1RN, PTGS2, PPARG, F5, MTHFR, GSTP1, GSTM1, GHRL, GSTT1, AKT1, ESR2, TP53, AR, CYP24A1, SULT1A1, OGG1, MSH2, MLH1, ATR |
| Cancer (colorectal) | CYP1B1, CYP1A2, ABCB1, SLC22A5, SERPINA1, SLC19A1, NAT2, INSR, HLA-DQB1, HLA-DQA1, HLA-DRB1, LEPR, NBN, IL6, IFNG, MTHFD1, LEP, ATP6, MT-CO1, APOE, F5, FASLG, FAS, FCGR3A, FLT1, IL18, IL12A, IGF1, TLR2, TGFB1, TP53, TCF7L2, PLAU, KDR, ATM, PLA2G2A, BMPR2, PIK3CA, PMS2, EPHX2, NOS2, CDH1, RB1, CTNNB1, MYC, ERBB2, PTEN, CDKN2A, CYTB, MDM2, EGFR, DNMT3B, BAX, CASP9, CXCL8, PARP1, CASP3, INHBA, BRCA1, ERCC1, GDF15, ERCC2, ABCC1, MT-CO3, HNF1A, BIRC5, DNMT1, DDX25, CASP6, CX3CL1, SERPINE1, VDR, COMT, ESR1, ICAM1, IL10, IL1A, IL1B, CAT, IL4, ND4, PGR, PON1, SOD2, TLR4, TNF, VEGFA, CYP1A1, HFE, IL1RN, PTGS2, PPARG, NFE2L2, MTRR, MTR, MTHFR, HIF1A, GSTT1, GSTP1, GSTM1, GPX1, GH1, GNAS, GPX4, GHRL, AKT1, AHR, ESR2, EGF, ACE, CYP19A1, CYP17A1, CYP11A1, CRP, CBS, NOS3, AR, IGF1R, XPA, HSD17B3, HSD17B2, BRCA2, PCNA, APEX1, SULT1A1, PTGS1, OGG1, NR1H3, NR1I2, MSH2, MMP2, MLH3, MLH1, MGMT, LIG4, NR3C1, CASP8, RAD23B, MGST1, MMP7, MMP9, XRCC1, XPC, RXRA, BMP4 |
| Cancer (cystadenocarcinoma) | TP53, PIK3CA, EGFR, BRCA1, BRCA2 |
| Cancer (endometrial) | CYP1A2, ABCB1, CYP1B1, FAS, IGF1, LEP, TLR2, PIK3CA, TP53, RB1, CTNNB1, ERBB2, PMS2, PTEN, ATM, MDM2, TIMP2, EGFR, SHBG, TRNL1, CASP3, TERF2, CA125, TERF1, BRCA1, ERCC1, ERCC2, ATR, IL6, IL17A, BCL2, CXCL8, TLR4, PCNA, MLH1, COMT, PGR, VEGFA, ESR1, CYP1A1, MTHFR, HIF1A, GSTT1, GSTP1, GSTM1, AKT1, ESR2, ACE, CYP19A1, CYP17A1, CYP11A1, CRP, SRD5A2, AR, TIMP1, HSD17B1, IGF2, TERT, BRCA2, MUC1, MSH2, WT1, CASP8, MGMT, MMP9, SULT1A1, MMP7, MMP2, SULT1E1, HNF1B, XPA, XPC, XRCC1 |
| Cancer (epithelial ovarian) | INSR, NBN, F5, FSHB, INHA, IL18, IGF1, LHCGR, TGFB1, PIK3CA, NOS2, TP53, IGF2R, ERBB2, CDKN2A, CTNNB1, PTEN, ATM, MDM2, EGFR, XRCC1, PARP1, PMS2, IGF1R, INHBA, BRCA1, ERCC2, ERCC1, ATR, MUC1, MSH4, MSH2, MLH3, MLH1, DNMT3L, DNMT1, PARP2, IL6, VDR, COMT, ICAM1, IL10, TNF, VEGFA, ESR1, PTGS2, PPARG, PGR, MTHFR, AMHR2, GNRHR, GNRH2, GNRH1, ESR2, EGF, CYP19A1, CYP17A1, SHBG, SRD5A2, AMH, AR, E2F1, SRD5A1, BRCA2, APEX1, PTGS1, LIG4, IGF2, DNMT3B, NRIP1 |
| Cancer (esophageal) | CYP1A2, CFTR, ABCB1, SLC19A1, NAT2, TNFRSF1A, HLA-DRB1, LEPR, NBN, HLA-C, IFNG, MTHFD1, FASLG, FAS, FRAP1, FLT1, IL1RN, IL5, IL2, IL6R, IL12A, IGF1, HLA-B, TGFB1, KDR, HSD3B2, NOS2, PIK3CA, TP53, CDH1, RB1, BCL2, ERBB2, CDKN2A, PTEN, ATM, CTNNB1, LEP, IGF2R, EGFR, XPC, XRCC1, XPA, CXCL8, MIR30A, CASP3, PMS2, IGF1R, PARP1, DICER1, AKR1C3, CASP9, PIK3CB, CDC25A, TERT, DGCR8, HSD17B4, ERCC2, ERCC1, PIWIL1, MIR146A, ABCC1, GSTM3, MTOR, DROSHA, ATR, VDR, HLA-A, CCL5, COMT, CYP1B1, IL10, IL1A, IL1B, IL4, IL6, PON1, SOD2, TLR4, TNF, VEGFA, ESR1, PTPN11, PTGS2, PPARG, PGR, MTRR, MTR, MTHFR, HIF1A, GSTT1, GSTP1, GSTM1, GNAS, GHRL, GSK3B, GH1, AKT1, AHR, EGF, CYP1A1, CYP19A1, CYP17A1, CRP, CBS, NOS3, AR, BAX, RAG1, MDM2, HSD17B1, IGF2, HSD17B2, HSD3B1, HSD17B3, DNMT3B, BRCA1, APEX1, PCNA, OGG1, MMP2, MGMT, PTGS1, LIG4, BRCA2, CYP24A1, CASP8, RAD23B, SULT1A1, MSH2, MMP9, MLH1, MBD2, BIRC5, IFNAR2, CDC25C, CCNB1, CCNA2, CASP4, BAT3, BAK1, NRIP1 |
| Cancer (eye) | BRCA2 |
| Cancer (fallopian tube) | BRCA2, ERBB2, TP53, BRCA1, MYC |
| Cancer (fibromyoma) | IGF1 |
| Cancer (fibrosarcoma) | GNAS |
| Cancer (gall bladder) | GSTM3, CDKN2A, TP53, TUSC1 |
| Cancer (gallbladder) | APOB, GSTP1, GSTT1, GSTM1 |
| Cancer (gastric) | ABCB1, HSPA1B, HSPA1A, HLA-DQB1, HLA-DRB1, HSPA1L, FCGR3A, IL1RN, KIT, TP53, CDH1, CDKN2A, ERBB2, ATM, EGFR, CASP1, XPC, XRCC1, CXCL8, CASP3, TGFA, GSTM3, DNMT3B, CASP9, ERCC2, ERCC1, MSH2, MLH1, MT-CO3, CASP6, CASP4, VEGFA, PIK3CA, HMOX1, IL10, IL1A, IL1B, IL6, TLR4, TNF, MTRR, MTHFR, GSTT1, GSTP1, GSTM1, GNAS, CYP1A1, FGFR2, IL17A, CD44, OGG1, MMP2, BCL2, EGF, CASP8 |
| Cancer (gastrointestinal) | HLA-DQB1, HLA-DQA1, KIT, TP53, CDH1 |
| Cancer (genitourinary) | ABCB1 |
| Cancer (germinoma) | GSTT1, GSTP1, GSTM1, DMRT1 |
| Cancer (gestational trophoblastic neoplasms) | TGFB1 |
| Cancer (glaucoma) | HLA-DQB1, TNFRSF1A, HLA-DRB1, HSPA1L, APOE, FKBP4, IL1RN, TLR2, TGFB1, NOS2, TP53, CDH1, XRCC1, IGF2, ERCC2, SFRS9, MT-ATP6, MT-CO3, MT-ND4, SERPINE1, CYP11B2, CYP1B1, IL1A, IL1B, SOD2, TLR4, TNF, PON1, PON2, MTHFR, GSTT1, GSTP1, GSTM1, ESR2, ESR1, EDNRA, ACE, NOS3, NR3C1, MMP9 |
| Cancer (glioblastoma) | HLA-DRB1, HLA-C, APOE, HLA-B, TP53, EGFR, SOD1, TERT, MGMT, IDH1, HLA-A, PTGS2, EGF, STAT1 |
| Cancer (glioma) | SOS1, RAF1, TP53, RB1, CDKN2A, PTEN, EGFR, TERT, ERCC2, ERCC1, CASP8, VEGFA, PTPN11, GSTT1, GSTP1, GSTM1, EGF |
| Cancer (granuloma) | HLA-DRB1 |
| Cancer (head and neck) | CFTR, ABCB1, NAT2, HLA-DQB1, HLA-DRB1, HLA-C, APOE, FOXO1A, FGF9, FAS, FASLG, HLA-B, TLR2, NODAL, SDHB, CD44, TP53, BCL2, CDKN2A, TNFSF10, XRCC1, XPC, XPA, IGF1R, EPHX2, DICER1, DNMT3B, MSH2, MGMT, ERCC2, ERCC1, CASP8, BRCA2, VDR, HLA-A, ICAM1, TLR4, TNF, PON1, CAT, VEGFA, PTGS2, MTRR, MTR, MTHFR, GSTT1, GSTP1, GSTM1, GPX1, CYP1A1, CCR5, AR, EGFR, TIMP2, BAX, MBD1, BIRC5, DROSHA, CDC7, SP1, OGG1, NR1I2, MMP2, APEX1, MLH3, SULT1A1 |
| Cancer (Hematologic) | NAT2, HLA-DQB1, HLA-DQA1, HLA-DRB1, HLA-C, HLA-B, KIT, XRCC1, HLA-A, MTRR, MTHFR, GSTM1, CYP2B6, HLA-DPB1, MPG, OGG1, APEX1, PCNA |
| Cancer (Hepatocellular) | CYP1A2, SERPINA1, NAT2, HSPA1B, HLA-DQB1, HLA-DQA1, HLA-DRB1, HLA-C, HFE, HSPA5, KIR2DS2, KIR2DL2, F5, FASLG, FAS, IL2, IL1RN, IL18, IL12A, TGFB1, STAT3, EGF, KDR, TP53, IGF1, RB1, MYC, CXCL8, IGF2, IGF1R, XRCC1, XPC, CDH1, TERF1, DNMT3B, TERF2, PIK3CA, ERCC2, MMP9, MMP7, IFNAR2, ABCC1, MIR146A, TGFA, TP73, CDKN2A, SERPINE1, COMT, CYP1B1, IFNG, IL10, IL1A, IL1B, IL4, IL6, SOD2, TNF, VDR, VEGFA, CAT, PTGS2, MTRR, MTHFR, HIF1A, GSTT1, GSTM1, GSK3B, GSTP1, ESR1, CYP1A1, CYP19A1, CYP17A1, CCR5, AR, CTNNB1, IGF2R, MDM2, ITGAV, STAT1, HLA-DPB1, PTEN, OGG1, MMP2, MMP12, MSH2 |
| Cancer (Hodgkin disease) | XRCC1, GSTT1, GSTM1 |
| Cancer (Kaposi's sarcoma) | HLA-DQB1, HLA-DRB1, FCGR3A, HLA-B, TP53 |
| Cancer (kidney) | NAT2, HLA-DQB1, HLA-DQA1, HLA-DRB1, TGFB1, XPC, XRCC1, WT1, ERCC1, CYP1B1, IFNG, IL10, IL6, TNF, VEGFA, MTHFR, HIF1A, GNAS, GSTM1, GSTP1, GSTT1, GSTM3, MYCN, CTNNB1 |
| Cancer (large B-cell lymphoma) | MYC, ATM |
| Cancer (large cell lymphoblastic lymphoma) | TP53, MTHFR |
| Cancer (laryngeal) | NAT2, HLA-DRB1, NBN, TP53, BCL2, CXCL8, XPC, XPA, XRCC1, ERCC2, ERCC1, MYC, EGFR, CDKN2A, IL1B, PTGS2, MTHFR, GSTT1, GSTM1, GSTP1, CYP1A1, AHR, GSTM3, OGG1, RAD23B |
| Cancer (leiomyoma) | IL2, IL1RN, IL18, VEGFA, CYP17A1, CYP19A1, TP53, IGF1, IGF2, CXCL8, XRCC1, XPA, CDH1, ERCC2, COMT, CYP1B1, IL1B, IL4, TNF, PGR, ESR2, ESR1, CYP1A1, AR, ACP1, OGG1 |
| Cancer (leukemia) | ABCB1, SLC19A1, PDCD1, NAT2, HLA-DQB1, HLA-DQA1, TNFRSF1B, HLA-DRB1, NBN, HSPA1B, LEPR, HLA-C, MTHFD1, KIR2DS2, KIR2DL2, APOE, F5, FCGR3A, FASLG, FAS, IL1RN, IL18, HLA-B, TGFB1, DDR1, IL12A, VEGFA, KDR, EGF, KIT, SOS1, NOS2, TP53, BCL2, CDKN2A, RAG1, EGFR, PARP1, CXCL8, CASP3, CASP1, XRCC1, XPC, AKR1C3, ZNF230, WT1, XPA, TOP2A, CSF1, IL6ST, TERT, MDM2, ERCC2, EPHX2, DNMT3B, CASP8, IDH1, ABCC1, BAK1, CYP1B1, HSPA1A, HSPA1L, HLA-A, ICAM1, IFNG, IL10, IL1A, IL1B, IL6, IL4, SOD2, TNF, TYK2, VDR, PTPN11, MTRR, MTR, MTHFR, HFE, GSTT1, GSTP1, GSTM1, GNAS, AKT1, ESR1, NLRP14, ACE, CYP1A1, CAT, PRF1, IGF2R, CYP2B6, ATM, BAX, ERCC1, CASP9, BRCA1, MSH2, MLH1, HLA-DPB1, MGMT, ATR, MMP9, LIG4, ITGA4, BIRC5, EZH2, APEX1, CDC25C, NR3C1, IFNA1, RAD23B, SULT1A1, NTRK1 |
| Cancer (liver) | ABCB1, NAT2, CYP1A2, SMYD3, HLA-DQB1, HLA-DRB1, IL1RN, IL18, TGFB1, IL12A, CYP17A1, TP53, EGFR, XRCC1, ERCC2, COMT, CYP1B1, IFNG, IL10, IL1B, IL6, TNF, MTHFR, HFE, GSTT1, GSTM1, GSTP1, GNAS, CYP1A1, MDM2, MLH1 |
| Cancer (lung) | CFTR, APOB, ABCB1, SERPINA3, SERPINA1, NAT2, INSR, HLA-DQB1, HLA-DQA1, TNFRSF1A, TNFRSF1B, HLA-DRB1, NBN, SLC19A1, HSPA1B, LEPR, CYP1A2, HLA-C, MTHFD1, APOE, FN1, FASLG, FAS, FRAP1, IL5, IL2, IL1RN, IL18, HLA-B, TGFB1, TLR2, VEGFA, IL12A, IL6R, CYP19A1, PLAU, SUMO1, PLA2G6, ELANE, EGF, NOS2, HSD3B2, STAT3, CYP17A1, TP53, RB1, MYC, ERBB2, CDKN2A, BCL2, DYNC2H1, KDR, DGCR8, LEP, PLA2G2A, TSPO, RXRB, STK11, RAD51, SOD1, PIK3CA, GSTM3, GPX5, IGF2R, IGF2, MYBL2, CHEK1, CYP2B6, RXRA, EGFR, CASP3, TERF1, PHB, SERPINE2, CXCL8, ATM, PMS2, SLC2A1, TERF2, HSD3B1, XPA, XPC, XRCC1, ZNF230, DICER1, CDH1, AKR1C3, IGF1R, TERT, PARP1, EPHX2, ERCC2, DNMT3B, RAD23B, SULT1A1, PCNA, LIG4, MSH2, MLH3, MIF, HSD17B4, MEST, MBD2, ARG2, EZR, IFNAR2, ABCC1, CASP8, E2F1, BRCA2, EZH2, CGA, CDC25C, CDC2, CCNA2, BAT3, TEP1, PIWIL4, SERPINE1, COMT, CYP1B1, HLA-A, HMOX1, HSPA1L, ICAM1, IFNG, IL10, IL1B, CCL5, IL6, IL1A, SOD2, TNF, VDR, HSPA1A, IL4, PON1, PPARG, PGR, MTRR, MTR, MTHFR, HIF1A, HFE, GSTT1, GSTP1, GSTM1, GPX1, GDF15, GSK3B, GPX4, |
| Cancer (lymphoma) | APOB, ABCB1, NAT2, HLA-DQB1, HLA-DQA1, TNFRSF1A, TNFRSF1B, HLA-DRB1, NBN, SLC19A1, HLA-C, CYP1A2, KIR2DS2, KIR2DL2, APOE, FCGR3A, FAS, FLT1, IL5, IL2, IL1RN, HLA-B, TGFB1, CLU, C3, VEGFA, TLR2, CAT, PRF1, NOS2, HSD3B2, TP53, CYP19A1, RB1, MYC, CDKN2A, STAT3, CYP11B1, BCL2, IL12A, SOD1, BAX, IGF2R, IGF2, AHR, CXCL8, HSD17B2, HSD3B1, XRCC1, XPA, XPC, SRD5A1, CASP3, ATM, AKR1C3, NPAS2, CASP1, IGF1R, NPC2, EPHX2, STAT1, BRCA1, LIG4, BRCA2, CASP8, RAD23B, COMT, CYP1B1, HLA-A, ICAM1, IFNG, IL10, IL1B, IL6, LEPR, SOD2, TLR4, TNF, VDR, CCL5, IL1A, IL4, PON1, PGR, MTRR, MTR, MTHFR, GSTT1, GSTP1, GSTM1, GPX1, GHRL, GPX4, GH1, G6PD, AIF1, ESR2, ESR1, ACE, CYP21A2, CYP1A1, CYP11B2, CCR5, CBS, PTGS2, CYP17A1, LEP, SHBG, AR, NOS3, IGF1, TIMP1, PRLR, HSD17B1, ERCC2, PARP1, NR1H3, MDM2, ERCC1, RAG1, CASP9, TOP2A, NR3C1, PTGS1, OGG1, APEX1, HLA-DPB1, MGMT, MSH2, MLH1, MBD2, IFNA1, H2AX, BAD, d, MMP9, MMP2, CD46, CASP6, CASP4, IDH1, BAK1 |
| Cancer (medullary thyroid) | NTRK1 |
| Cancer (Medullary) | RAF1, STAT1, COMT, BCL2 |
| Cancer (medulloblastoma) | NBN, TP53 |
| Cancer (melanoma) | SOX10, HLA-DQB1, HLA-DQA1, HLA-DRB1, KIR2DL2, FAS, FASLG, IL2, HLA-B, TGFB1, IL6R, KIT, PLA2G6, ACE, NOS2, TP53, CDKN2A, EGF, IL12A, BMP4, EGFR, CXCL8, XPC, XRCC1, ATM, LIG4, APEX1, BRCA2, CASP8, HLA-C, HLA-A, ICAM1, IFNG, IL10, IL6, IL1B, NBS1, TNF, VDR, IL4, HMOX1, PPARG, MTRR, GSTT1, GSTM1, GDNF, GNAS, GSTP1, CCR5, IGF1, IGF2, ERCC2, PARP1, MDM2, MGMT, ERCC1, MMP9, MSH2, MLH1, MMP2, IFNA1, RAG1 |
| Cancer (meningeal) | MEFV, ICAM1, F5, CCL5, C3, STAT4, TLR2, SERPINC1, NOS2, TP53, INSL3, SOD1, CXCL8, XDH, CASP8, STAT1, SERPINE1, SOD2, TLR4, TYK2, CYP21A2, CRP, NOS3, STAT3, MIF, LPO, TWF1, HGF, DEFB126, CTNNB1 |
| Cancer (meningioma) | HLA-DQB1, HLA-DRB1, TGFB1, CDKN2A, XRCC1, CDH1, HLA-A, NF2, PTEN, ERCC2 |
| Cancer (mesothelioma) | NAT2, GSTM1, GSTT1, CYP1A1 |
| Cancer (mouth) | NAT2, VEGFA, PTGS2, TP53, XPA, ATM, IL10, IL6, SOD2, IL4, IL1B, MTHFR, GSTM1, GSTT1, GPX1, CYP1A1, CAT, ERCC2 |
| Cancer (myeloid leukemia) | TYK2, KIT, WT1, STAT1, GSTT1, GSTP1, GSTM1, AKT1, STAT3, BCL2, IFNAR2 |
| Cancer (myeloma) | ABCB1, TNFRSF1A, TNFRSF1B, HLA-DRB1, NAT2, FGFR3, FASLG, FAS, FCGR3A, IL5, IL2, IL1RN, IL18, ICAM1, IL1R2, IL6R, TLR2, PTGS2, DNAH11, TP53, VEGFA, AHR, CXCL8, IGF1R, LIG4, TNFRSF25, ABCC1, CASP8, IL10, IL6, TLR4, TNF, CYP1B1, IL1A, IL1B, IL4, PON1, PPARG, MTRR, MTR, MTHFR, HFE, GSTT1, GSTM1, GSTP1, CYP1A1, IGF1, IL12A, TNFSF10, ERCC2, IL6ST, CASP3, CASP9, ERCC1, RAG1 |
| Cancer (nasal polyps) | MMP2, TNF |
| Cancer (nasopharyngeal) | ABCB1, HLA-DQB1, HLA-DQA1, HLA-DRB1, NAT2, HSPA1B, IL1B, FASLG, FAS, IL2, IL18, HLA-B, TGFB1, HLA-E, PTGS2, TP53, VEGFA, CDKN2A, PIK3CA, CXCL8, XRCC1, CDH1, ERCC1, CADM1, BCL2, HLA-C, IFNG, IL10, TLR4, TNF, HLA-A, MTHFR, GSTT1, GSTM1, IL12A, MDM2, HLA-DPB1, ERCC2, MMP12, MMP2, MMP9, MMP7 |
| Cancer (nerve sheath neoplasms) | TP53 |
| Cancer (Neuroblastoma) | KIR2DS2, KIR2DL2, FCGR3A, HLA-B, HLA-C, IL6, HLA-A, GSTT1, GSTP1, GSTM1, MDM2, NTRK1 |
| Cancer (non-Hodgkin lymphoma) | NAT2, FCGR3A, IL5, IL4, IL2, IL1RN, IL1B, NOS2, MYC, IL10, IL6, SLC19A1, SOD2, TNF, IL1A, PPARG, PON1, MTR, MTHFR, GPX1, GSTT1, GSTM1, CYP1A1, NOS3, BCL2, OGG1, MSH2 |
| Cancer (non-melanoma skin cancer) | NBN, IL1B, TP53, PTGS2, XPC, XRCC1, CXCL8, ERCC1, IL10, IL6, SOD2, PPARG, MTHFR, HFE, GSTT1, GSTP1, GSTM1, CYP1A1, MDM2, ERCC2, NR3C1 |
| Cancer (Non-small cell lung) | EGFR, CDKN2A, TP53, PIK3CA |
| Cancer (noncardia gastric) | IL4, IL1B, IL10, IL6, TNF |
| Cancer (ocular melanoma) | CDKN2A |
| Cancer (oligodendrogliomas) | CDKN2A |
| Cancer (oral premalignant lesions) | XPA, XPC, DICER1, ERCC2 |
| Cancer (oral) | TGFA, HMOX1, GSTM3, PLAU, TP53, VEGFA, EGFR, IGF2R, XPA, XPC, XRCC1, CXCL8, CDKN2A, OGG1, ERCC1, MYC, STAT3, SERPINE1, TNF, GSTT1, GSTM1, GSTP1, CYP1A1, CYP17A1, ERBB2, TIMP2, IGF2, MMP2, MGMT, MMP9, ERCC2 |
| Cancer (orolaryngeal) | GSTM1 |
| Cancer (Oropharyngeal) | TP53, EGFR, GSTT1, GSTP1, GSTM1 |
| Cancer (osteosarcoma) | TP53, RB1, EGFR, IL10, IL6, TNF, MDM2 |
| Cancer (ovarian) | ABCB1, HLA-DQB1, HLA-DQA1, TNFRSF1B, HLA-DRB1, NAT2, NBN, MTHFD1, HLA-A, ATP6, IL1A, FAS, FSHR, FASLG, FGFR2, FST, FN1, IL1RN, IL1B, IL18, HLA-B, TGFB1, TCF7L2, TYK2, C3, STAG3, MT-CO1, MYC, TP53, ATP8, RB1, CYP19A1, VEGFA, EGF, CD44, ITGB1, INHBA, BMP4, TIMP2, PIK3CA, PLAU, XRCC1, XPC, XPA, PMS2, CSF1, CXCL8, ERBB2, IGF1R, TERT, CDKN2A, CCND2, BNC2, TNFAIP3, CD24, SNAI1, RAD51, PHB, MIR140, GSTM3, PLAUR, IL6ST, PCNA, OGG1, BRCA1, LIG4, HSD17B4, SULT1A1, ERCC1, E2F1, CDC25A, CASP8, STAT1, BRCA2, IFNG, MLH1, COMT, CYP1A2, HLA-C, IL10, IL6, PLAT, SERPINE1, TGFB3, TNF, VDR, SOD2, PON1, PGR, MTHFR, HIF1A, GSTM1, GSTP1, GSTT1, GPX4, ESR2, ESR1, DCN, CYP1B1, CYP1A1, CTSD, CYP17A1, PTGS2, SRD5A2, SOX9, SHBG, AR, NOS3, TIMP1, TNFSF10, IGF1, STAT3, HSD17B1, PTEN, BCL2, CDH1, ATM, MDM2, PTGS1, ERCC2, ABCC1, MMP9, MMP7, MLH3, MSH2, MMP2, MEST, MUC1, MAPK1, MIRLET7A1, MIR145, MIR21, EZR, ITGA6, MIR146A, CDC20, CCNB1, CCNA2, CCNA1, MT-CO3, BIRC5, MMP12, ITGAV |
| Cancer (pancreas adenocarcinomas) | TP53, CDKN2A, BRCA1, BRCA2, MDM2 |
| Cancer (Pancreatic ductal) | NAT2, TP53, PIK3CA, ATR, SULT1A1, CYP1A2, MTRR, CYP17A1, ATM |
| Cancer (pancreatic) | CFTR, SPINK1, NAT2, STK11, FGFR3, FGFR2, IL1B, CHEK1, GATA1, TGFB1, CCL5, KIT, TP53, DPP6, RB1, PTEN, CTNNB1, EGFR, XRCC1, XPC, XPA, WT1, PIK3CA, MGMT, BIRC5, ATR, MSH2, MLH1, HNF1A, IDH1, ERBB2, ERCC2, OGG1, LIG4, APEX1, BRCA2, BRCA1, CDKN2A, DAXX, IFNG, TNF, CYP1A2, SOD2, PTPN11, PPARG, NF2, MTRR, MTR, MTHFR, GSTT1, GSTM1, GSTP1, GNAS, CYP1B1, CYP1A1, CCR5, PTGS2, EGF, CDH1, ATM, CASP9, NR5A2 |
| Cancer (Papilary) | HLA-DRB1, NAT2, TP53, EGFR, XRCC1, PIK3CA, LIG4, HLA-C, IL10, IL6, GSTT1, GSTP1, GSTM1, AKT1, CYP1A1, VDR, ATM, MLH1, RAP1A |
| Cancer (papillary thyroid cancer) | GSTT1, GSTM1 |
| Cancer (paragangliomas) | SDHB |
| Cancer (penile) | BMI1, MMP2, MMP9, PTGS2, CDH1, TP53, MDM2, MYC, CDKN2A |
| Cancer (plasma cell myeloma) | ABCB1 |
| Cancer (prostate adenocarcinoma) | HSF1 |
| Cancer (prostate) | SDHA, ABCB1, CFTR, SERPINA3, NAT2, NBN, MTHFD1, APOE, FSHR, INHA, IL5, IL4, IL2, IL1RN, IL1B, IL1A, IL18, ICAM1, HLA-A, TGFBR3, TGFB1, CCL5, TCF7L2, LHCGR, CYP11A1, TLR2, SDHB, SPATA16, HSD3B2, NOS2, ATP6, ACE, MT-CO1, TP53, MYC, HIF1A, LHB, CYP19A1, VEGFA, PRLR, CAT, SOD1, ITGB1, IGF1, EGF, INHBA, PTEN, CYP2B6, HSD17B2, EGFR, SRD5A1, XRCC1, XPC, NPAS2, CXCL8, HSD3B1, PIP, IGF1R, SULT2A1, PIK3CA, HSD17B1, ERBB2, ERCC2, OGG1, MED1, RXRA, CASP9, RXRB, RAD51, GSTM3, IGFALS, HGF, APEX1, EZH2, HSD17B4, BGLAP, SULT1A1, MLH1, MGMT, KLK3, PGK1, ERCC1, LIG4, MMP9, HNF1B, CGA, MUC1, MSMB, MSH2, CASP8, MMP7, MMP2, MIF, MIR146A, ITGA6, PDIA3, BRCA2, BRCA1, LMTK2, ETV5, GSTP1, AR, CLOCK, COMT, IL10, IL6, LEPR, NCOA2, SLC19A1, SERPINE1, TLR4, TNF, HSPA1L, SOD2, PRL, PPARG, PON1, PGR, MTRR, MTR, MTHFR, HFE, GSTT1, GSTM1, GPX1, GNRH1, GDF15, GNAS, GC, GPX4, GPRC6A, FSHB, FGFR3, AKT1, ESR2, ESR1, CYP1B1, CYP1A2, CYP1A1, CYP11B2, CRP, CCR5, CBS, VDR, LEP, PTGS2, SRD5A2, NOS3, SHBG, CYP17A1, HSD17B3, BCL2, DNMT3B, CDH1, AKR1C3, |
| Cancer (rectal) | TP53, EGF, TIMP1, EGFR, XRCC1, ERCC2, ERCC1, MTHFR, VDR, PIK3CA, ATM |
| Cancer (renal cell) | DKK3, DGCR8, RXRA, ABCB1, NAT2, APOE, IL4, IL1A, HLA-A, CCL5, SDHB, TP53, VEGFA, KDR, EGF, EGFR, XPA, XRCC1, XPC, PIWIL1, ERCC2, DROSHA, CASP8, COMT, IL10, TNF, MTHFR, GSTT1, GSTM1, FASLG, FAS, ESR1, CYP1A2, CYP1A1, VDR, HIF1A, AR, BCL2, DICER1, CDH1, MDM2, MSH2, MLH1, MIR146A |
| Cancer (retinal) | MTR, PTEN, MTHFR, AKT1, RB1, PIK3CA, MDM2 |
| Cancer (salivary gland) | MYB, NTRK3, HNF1B, CDKN2A, EGFR, ERBB2 |
| Cancer (sarcoma) | TP53, ERCC2 |
| Cancer (skin) | GSTM3 |
| Cancer (small cell lung) | DYNC2H1, MYC, TP53, BCL2 |
| Cancer (small cell) | CHRM3, TNF, CHI3L1, WIF1, NQO1 |
| Cancer (soft tissue sarcoma) | TP53, GSTT1 |
| Cancer (solid tumors) | ABCB1, KDR, ABCC1 |
| Cancer (squamous cell) | RGS3, RGS22, ALS2CR12, HLA-DQB1, HLA-DQA1, TNFRSF1A, TNFRSF1B, ATRN, HLA-DRB1, NAT2, SMYD3, RAD51, F5, IL4, IL2, IL1RN, IL1B, IL1A, IL18, HLA-B, HLA-A, TGFB1, IL6R, MYC, TP53, ACE, VEGFA, BAX, EGF, TIMP2, PTEN, EGFR, XRCC1, CXCL8, XDH, XPA, XPC, ERBB2, OGG1, MMP9, MMP2, MMP12, ERCC2, ERCC1, CASP8, SULT1A1, BRCA2, FAS, ABCB1, HLA-C, IFNG, IL10, IL6, LEPR, TNF, SOD2, NFE2L2, MTRR, MTHFR, FGFR3, FGFR2, FCGR3A, FASLG, MTR, CYP1B1, CYP1A2, CYP1A1, CRP, GSTT1, GSTP1, GSTM1, GNAS, CBS, VDR, HIF1A, LEP, PTGS2, BCL2, TERT, RB1, PIK3CA, CDKN2A, IGF1R, DNMT3B, MUC1, CASP3, MDM2, MGMT, MLH1, MIR146A |
| Cancer (stomach) | HLA-DQB1, HLA-DQA1, HLA-DRB1, NAT2, NBN, MTHFD1, IL4, IL2, IL1RN, IL1B, IL1A, IL18, RAD51, HMOX1, GSTM3, PRKAA1, TGFB1, CCL5, TLR2, MTR, NOS2, KIT, ACE, TP53, MYC, VEGFA, EGF, CTNNB1, TIMP2, CXCL8, XRCC1, EGFR, ERBB2, OGG1, MUC1, MMP9, MMP2, MGMT, APEX1, ERCC2, ERCC1, SULT1A1, BRCA2, BRCA1, ABCB1, COMT, HSPA1B, IFNG, IL10, IL6, SLC19A1, SERPINE1, TLR4, TNF, SOD2, PTPN11, MTRR, MTHFR, F5, FAS, FASLG, CYP1B1, CYP1A2, GSTP1, GSTT1, GSTM1, GSK3B, CYP1A1, CYP19A1, HIF1A, PTGS2, IL12A, CYP17A1, SHBG, CDH1, MSH2, MLH1, HSD17B1, CDKN2A, PIK3CA, IGF1R, IGF2, DNMT3B, PTGS1, MDM2, MIR146A, DNMT1 |
| Cancer (T-cell leukemia) | CDKN2A |
| Cancer (testicular germ cell) | ESR1, ESR2, LHCGR, HSD17B4 |
| Cancer (testicular) | HLA-DQB1, HLA-DRB1, TGFB1, SPRY4, KITLG, IGF1, HSD17B4, ERCC2, ERCC1, SULT1A1, BAK1, COMT, IL10, TNF, ESR2, ESR1, CYP1B1, CYP1A2, GH1, GSTT1, GSTP1, GSTM1, CYP19A1, AR, CYP1A1, CYP17A1, DMRT1, HSD17B1, TERT, SULT1E1 |
| Cancer (thyroid) | HLA-DQB1, HLA-DQA1, VWF, HLA-DRB1, NBN, CCL5, GSTP1, TYK2, GSTT1, GSTM1, SHH, SDHB, KIT, TP53, MYC, STAT3, XRCC1, WT1, IL6ST, ERCC2, CGA, RAF1, LIG4, BAD, ACHE, CDYL, PRKAR1A, SPAG17, RAD51, CDH1, PPARG, CTNNB1, NTRK1, HLA-C, PLAT, FAS, FASLG, FN1, FGFR1, ESR1, GFRA1, AMH, CYP1A1, PLAU, PIK3CA, PMS2, LGALS3BP, MMP7, MLH1, MAPK1, SRC, NRG1, HSD3B2 |
| Cancer (tongue) | TP53 |
| Cancer (tonsillar) | HIF1A, CDKN2A, MYC |
| Cancer (transitional cell) | NAT2, GSTM1, GSTT1, GSTP1, TP53, XRCC1, XPC, MDM2, BIRC5, ERCC2, HLA-G, FGFR3, HIF1A, CDH1 |
| Cancer (ureteral) | AR |
| Cancer (urinary bladder) | NAT2, GSTT1, GSTM1, MYC, XRCC1, FGFR3 |
| Cancer (urologic) | GSTP1, SULT1A1, ABCB1, MTHFR |
| Cancer (urothelial) | NAT2, SULT1A1, CDH1 |
| Cancer (uterine cervical) | NBN, IL2, IL1B, IL18, GSTT1, GSTM1, TP53, XRCC1, FAS |
| Cancer (uterine leiomyoma) | COMT, ESR1, CYP17A1, MMP9 |
| Cancer (uterine) | ESR2, ESR1 |
| Cancer (uveal melanoma) | BRCA2, CDKN2A |
| Cancer (vulvar) | IL1RN, IL1B, IL1A, PTEN, TP53, IL6 |
| Cancer (Waldenstrom macroglobulinaemia) | IL6, FASLG |
| Cancer of the anal canal | DCC, APC, TP53 |
| Cap myopathy | TPM3, TPM2 |
| Capacitation | HSPA2 |
| Capillary malformation-arteriovenous malformation | RASA1, EPHB4 |
| CAPOS syndrome | ATP1A3 |
| Carbamoyl phosphate synthetase I deficiency | CPS1 |
| Carbamoyl phosphate synthetase I deficiency disease | CPS1 |
| Carboxypeptidase N deficiency | CPN1 |
| Carcinoid | SDHD, MEN1 |
| Cardiac arrhythmias | KCNQ1, FAM189A1 |
| Cardiac conduction disease with dilated cardiomyopathy | TNNI3K |
| Cardiac death myocardial dysfunction | CASP1 |
| Cardiac valvular defect, developmental | PLD1 |
| Cardioencephalomyopathy | COA6 |
| Cardiofaciocutaneous syndrome | KRAS, BRAF, MAP2K2, MAP2K1 |
| Cardiomegaly | SLC2A1, RAF1 |
| Cardiomyopathy | HLA-DQA1, PAFAH1B1, LMNA, MYH7, TPM1, RAF1, SDHA, NFKB1, AR, ADIPOQ, RUNX1, UTS2, MIR433, EP300, TSHR, KLK1, SRF, DGAT1, DTNA, JUP, MLYCD, POMT1, TTN, DES, TFAP2A, EDN1, TRDN, TNF, S100B, UCN, UBE2I, DMD, IL13RA2, HP, OBSCN, MMP14, ECE1, CACNG8, CD40, PPP3R1, SP4, VCL, NEBL, ABCC9, CACNB4, CSRP3, NFATC4, RBPJ, ACTC1, DSP, PRKCB, EMD, CTF1, LDB3, EYA4, FKRP, ANKRD1 |
| Cardiospondylocarpofacial syndrome | MAP3K7 |
| Cardiovascular disease | CYP2B6, CST3, ANXA5, APOB, APOA1BP, APOA1, AGTR1, ALDH1A2, SLC22A5, SERPINA3, SERPINA1, DMRT1, LIPE, INSR, HLA-DQB1, HLA-DQA1, TNFRSF1A, TNFRSF1B, VWF, HLA-DRB1, KIR2DS2, PDCD1, CYP17A1, MEFV, HSPA1A, NGF, APOE, IL4, IL2, IL1RN, IL1B, IL1A, IL18, ICAM1, HMOX1, HLA-B, HLA-A, TGFB1, CCL5, SIRT1, NODAL, CSNK2A2, TCF7L2, CLU, C3, DCN, IL6R, TLR2, MTR, BMPR2, CTSD, GSTT1, GJA1, GATA4, GSTM1, SOS1, GPX1, GC, GAS6, GNAS, GSTP1, COX10, GHRL, TPM1, SEMA3A, HLA-E, NOS2, ELANE, CYP11B1, TP53, ACE, VEGFA, CAT, NECTIN2, IL17A, IGF1, PLA2G2A, BAT2, TERF2, EGF, TIMP1, HIF1A, TERF1, SAA1, STAT3, ITGB1, SLC26A8, DYNC2H1, DNAH11, TIMP2, CXCL8, TF, EGFR, XRCC1, EPHX2, PTGS1, NR3C1, PLAUR, OGG1, MIR146A, HNF1A, IL6ST, AQP5, CYP24A1, APEX1, HFE, ERCC2, ENO1, ADAMTS1, TLR4, TEP1, BRCA1, SULT1A1, SPACA1, RAF1, USF1, ABCB1, BDNF, COMT, HLA-C, HSPA1B, IFNG, LEPR, CYP19A1, SLC19A1, SERPINE1, TNF, IL10, HLA-G, IL6, PTPN11, PPARG, PON2, PON1, PLAT, MTRR, MTHFR, MTHFD1, F5, F3, FCGR3A, F2R, FN1, F10, FAS, ESR2, ESR1, EDNRA, CYP1B1, CYP1A |
| cardiovascular system disease | HP, ADIPOQ, APOA4, CCL2, HSPA1A, MPO, CFH, LIPG, ENPP1, DDAH1, TLR9, AGER, PPARGC1A, GIPR, GYS1, FGB |
| Carey-Fineman-Ziter syndrome | MYMK |
| Carney complex | PRKAR1A |
| Carnitine deficiency | SLC22A5 |
| Carnitine palmitoyltransferase I deficiency | CPT1A |
| Carnitine palmitoyltransferase II deficiency | CPT2 |
| Carnitine-acylcarnitine translocase deficiency | SLC25A20 |
| Caroli disease | WDR19 |
| Caroli's disease | PKD1 |
| Carotid artery disease | PLA2G7, TNFRSF11B, NAMPT, CTSS, CD63, HSPG2, UTS2, AGER, VCAM1, MMP8, SREBF2, AGTR1, UCP2, SELPLG, CETP, GNB3, AGT, FGB, LTA |
| Carotid artery diseases | ALOX15, APOB, APOE, HSPA4, TGFB1, SOD2, CLU, GPD2, TUSC1, SEC23IP, PRDM9, TIMP2, XDH, XRCC1, MMP12, HGF, IFNG, NCOA2, SERPINE1, TLR4, TNF, IL10, IL6, PTPN11, PPARG, PON1, NF2, MTHFR, F5, FGF9, ESR1, CRP, CCR5, PTGDS, USF1, ACE, NOS3, RYR3, HDGFL1, MMP9, MYCN, CACNA2D1, DNAH9, MMP2, LIG4 |
| Carotid artery thrombosis | THBD |
| Carotid stenosis | PLA2G7, MT2A, F2 |
| Carpal tunnel syndrome | HLA-DRB1 |
| Carpenter syndrome | RAB23, MEGF8 |
| Carvajal syndrome | DSP |
| Castleman Disease | IL6 |
| Cataract | DMPK, HLA-DQB1, APOE, GSTM1, GSTT1, XRCC1, ERCC2, VIM, WFS1, MTHFR, TDRD7, SIPA1L3, CRYBA4, CRYAB, LSS, CRYGS, LEMD2, CHMP4B, GCNT2, MAF, CRYBA1, NHS, CRYGD, GJA3, PITX3, EPHA2, CRYBB1, CRYBA2, CRYAA, LIM2, SLC16A12, UNC45B, HSF4, CRYBB2, BFSP2, AGK, FYCO1, FOXE3, FGF2, AKR1B1, ALDH18A1, GALK1 |
| Cataract 7 | CRYGD |
| Cataract 9 multiple types | PITX3 |
| Catecholaminergic polymorphic ventricular tachycardia | TRDN, CASQ2, RYR2, TECRL |
| CATSHL syndrome | FGFR3 |
| Caudal duplication anomaly | AXIN1 |
| Caudal regression syndrome and Sirenomelia | VANGL1 |
| Causes abnormal head morphogenesis | TNP2 |
| Causes defects in murine sperm motility | ROPN1, ROPN1L |
| Causes infertile round-headed spermatozoa, which have acrosome-less round heads and deformed tails | GOPC |
| Causes sperm deformation and male infertility | SPEM1 |
| Causes spermatogenic arrest in meiosis | AR |
| Cavitary optic disc anomalies | MMP19 |
| CBL syndrome | CBL |
| CD36 deficiency | CD36 |
| CD8 deficiency, familial | CD8A |
| CEDNIK syndrome | SNAP29 |
| Celiac disease | TNFAIP3, SPINK2, DMPK, SPINK1, PARK7, HLA-DRA, HLA-DQB1, HLA-DQA1, HLA-DPB1, HLA-DRB1, IFNG, KIR2DL2, IL6, IL4, IL2RA, IL21, IL2, IL1RN, IL5, IL1B, IL1A, IL18, ICAM1, HLA-B, HLA-A, TGFB1, CCL5, PRM1, GDNF, CYP11A1, IL6R, ADAD1, SPEF2, PCNX1, SERPINE2, SEC23IP, YES1, APP, MAS1, IL6ST, CACNA2D1, ITGA4, DAO, HLA-C, TLR4, HLA-G, IL10, TNF, PTPN11, NFKB1, MTHFR, HFE, FAS, FOXP3, FASLG, FCGR3A, ERBB4, CCR5, VDR, IL12A, IGF2R, NR3C1, CTLA4, MYO9B, F2, IL23R |
| Cell proliferation and prostaglandin production | TNF |
| Cenani-Lenz syndactyly syndrome | LRP4 |
| Central areolar choroidal dystrophy | GUCY2D, PRPH2 |
| Central core disease | RYR1 |
| Central precocious puberty | MKRN3 |
| Central retinal vein occlusion | PROC |
| Centronuclear myopathy | MTM1, SPEG, CCDC78, BIN1 |
| Cerebellar ataxia | ATCAY, RPGRIP1L, L2HGDH, SYNE1 |
| Cerebellar ataxia cayman type | ATCAY |
| Cerebellar ataxia, mental retardation | VLDLR, WDR81, CA8, ATP8A2 |
| Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | RFC1 |
| Cerebellofaciodental syndrome | BRF1 |
| Cerebral amyloid angiopathy | MME, CCR1, AOC3, OLR1 |
| Cerebral amyloid angiopathy (CAA) | A2M, SERPINA3, APOE, IL1A, PON1, CST3, APP |
| Cerebral arteriopathy | TLR4 |
| Cerebral atherosclerosis | ACE |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy | NOTCH3 |
| Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | HTRA1 |
| Cerebral cavernous malformation | PDCD10, KRIT1, CCM2 |
| Cerebral creatine deficiency syndrome | SLC6A8, GAMT, GATM |
| Cerebral hemorrhage | APOB, SERPINA3, APOE, IL6, IL1B, GPX1, PON2, MTHFR, CRP, TNF, ACE |
| Cerebral infarction | AGTR1, APOE, IL6, IL4, IL1RN, IL1B, IL1A, CCL5, TP53, NR3C1, BDNF, COMT, SERPINE1, APOB, PON1, MTHFR, F5, ESR1, EDNRA, TNF, ACE, ADM, SLC12A2, PRKCG, F12, CSF3, CXCL10, EPO, PLA2G7, HMGB1, AGER, ANG, TNFRSF11B, F7, PTGDR, GRIN1, SERPING1, APOA5, PROS1, PDX1, TOMM40, LIPG, THBD, TBXAS1, LTA, ITGA9 |
| Cerebral palsy | AGTR1, APOE, IL6, IL4, IL1B, IL10, NOS2, CXCL8, KANK1, ANXA5, SERPINE1, TLR4, PLAT, MTHFR, F5, CBS, TNF, NOS3, PTGS2, ALOX5AP |
| Cerebrocostomandibular syndrome | SNRPB |
| Cerebrooculo facioskeletal syndrome | ERCC1 |
| Cerebrovascular disease | APOA1, APOE, MTRR, IL10, ICAM1, HMOX1, CYP11B2, MTR, PTGS2, SERPINA3, SERPINE1, PON1, MTHFR, F5, CBS, TNF, ACE, NOS3, AGTR1, P2RY12, AGT |
| Ceroid lipofuscinosis | CTSD |
| Cervical adenocarcinoma | TFF1, TFRC, TP53 |
| Cervical cancer | KRAS, CDKN1A, HRAS, EBAG9, HOXB13, PRKN, CD55, BCL2L1, API5, ANG, BIRC2, MED4, ZFHX3, SMAD4, HNRNPC, PGM3, PTK2, TIMP4, MMP13, MDC1, HSPA8, CDH13, KMT2A, MAP2K3, MAP2K6, KMT2E, TNFRSF10A, TAP1, TAP2, TNF, NDUFS6, SMAD2, FANCA |
| Cervical dystonia | APOE |
| Cervical squamous cell carcinoma | TMBIM6, CSF1R, BIRC2, PDPN, TYMP, BRIP1, TP53, FOS, FGF7 |
| Cervix carcinoma | BAG1, TK1, PTK2, CCND3, TSG101, TAP2, ERAP1 |
| cervix uteri carcinoma in situ | MGP, CCNG1, SKP2, TLR9, XIAP, CDKN1A, CSF1R, DLG1, RELA, CDKN2B, ADAM9, HDAC2, CDKN1B, HDAC6, CCNE1, CCND1, CTNNA1, TERC |
| Charcot-Marie-Tooth disease | TRPV4, LMNA, DYNC1H1, SBF1, VCP, MTMR2, HSPB11, HSPB1, DNM2, PDK3, KARS1, MARS1, PMP22, NEFH, YARS1, MPZ, TRIM2, HARS1, GNB4, SLC25A46, PRX, GJB1, COX6A1, AARS1, KIF1B, PMP2, INF2, PRPS1, RAB7A, SBF2, MED25, GARS1, MFN2, LITAF, EGR2, SURF1, HSPB8, SH3TC2, FGD4, MME, NDRG1, JPH1, DHTKD1, PLEKHG5, LRSAM1, MORC2, IGHMBP2, GDAP1, NEFL, TNFRSF11B |
| Charcot-Marie-Tooth disease axonal type 2C | GDAP1 |
| Charcot-Marie-Tooth disease axonal type 2K | GDAP1 |
| Charcot-Marie-Tooth disease type 2A1 | KIF1B |
| Charcot-Marie-Tooth disease type 4A | GDAP1 |
| Charcot-Marie-Tooth disease type 6 | MFN2 |
| CHARGE syndrome | CHD7, SEMA3E |
| Chediak-Higashi syndrome | LYST |
| Cherubism | SH3BP2 |
| Childhood absence epilepsy | GABRG2, GABRB3, CACNA1H, GABRA1, NPY, CACNG3, LGI4, GRIK1 |
| Childhood B-cell non-Hodgkin's lymphoma | TP53 |
| Childhood idiopathic thrombocytopenic purpura | TGFB1 |
| Childhood onset epileptic encephalopathy | TBC1D24 |
| Childhood-onset mood disorders | PRL, OXTR, PRLR, BDNF, OXT |
| CHIME syndrome | PIGL |
| Choanal atresia and lymphedema | PTPN14 |
| Cholangiocarcinoma | TP53, PTGS2, CDKN2A, KRAS, FSCN1, MUC4, KRT7, ADRB2, FGF2, THBS1, HDAC6, IL4R, MUC6, APOA1, ALOX5, MUC2, UGT1A9, PAWR, ANXA8, NOTCH1, MKI67, ASPH, APC, BRAF |
| Cholangitis | SLC22A5, HLA-DQB1, ICAM1, CFTR, HLA-DRB1 |
| Cholelithiasis | CYP17A1, HLA-DQB1, HLA-DRB1, HLA-G, APOE, APOB, IL4, ESR1, CYP1B1, CYP1A1, NR1H3, CCKAR |
| Cholestasis | HLA-DRB1, ABCB4, VPS33B, UTP4 |
| Cholestasis of pregnancy | HDAC3 |
| Cholesteatoma of middle ear | TP53, RELA, CDKN1A, TNF, FGF2, IL1R1 |
| Cholesterol ester storage disease | LIPA |
| Chondrocalcinosis | ANKH |
| Chondrodysplasia Chassaing-Lacombe type | HDAC6 |
| Chondrodysplasia punctata | EBP, ARSL |
| Chondrodysplasia with joint dislocations, GPAPP type | BPNT2 |
| Chondrosarcoma | MTHFR, CHI3L1, EXT1, COL2A1, TAF15 |
| CHOPS syndrome | AFF4 |
| Chorea, childhood-onset, with psychomotor retardation | GPR88 |
| choreatic disease | NKX2-1 |
| Choreoacanthocytosis | VPS13A |
| Chorioamnionitis | TNFRSF1A, TNFRSF1B, VWF, APOE, APOB, IL4, IL2, IL1RN, IL1B, IL1A, IL10, HLA-G, TLR4, TGFB1, GSTT1, TLR2, IL18, SERPINC1, NOS2, VEGFA, IL6R, IGF1, TIMP1, PTGS2, OXTR, LTF, CSF1, IL5, TIMP2, CXCL8, PTGS1, PLAUR, MMP9, MMP7, MMP2, MMP12, MIF, LYZ, SERPINE1, PPARG, PON1, PLAT, MTHFR, F5, FN1, FLT1, F3, ESR2, ESR1, TNF, ACE, NOS3, PGF, HLA-E, LEP, IL1R2, IL12A, CYP1A1, IGF1R, PLAU, IGF2R, IL1RAPL1 |
| Choriocarcinoma | MMP2, TP53, BCL2, MYC, EGFR, MDM2, CSF1R, PDGFRB, TIMP3, PDGFB |
| Chorioretinitis | KIR2DS2, IL10, HLA-A, HLA-C, IFNG, TNF, COL2A1 |
| Choroid diseases | APOE, SOD2 |
| Choroid plexus papilloma | TP53 |
| Choroidal neovascularization | IL6, IL1B, IL10, MTRR, C3, IL18, MTR, CXCL8, NPHP1, MTHFR, F5, CRP |
| Choroidal sclerosis | PRPH2 |
| Christianson syndrome | SLC9A6 |
| Chromosme 5p deletion syndrome | TERT, CTNND2, SEMA5A |
| Chromosomally abnormal pregnancy trisomy 21, 28,18, 19, 13 | PIGF |
| Chromosomally abnormal pregnancy trisomy 21, 28,18, 19, 13, Turner syndrome and triploidy. | PIGF |
| Chromosome 15q13.3 microdeletion syndrome | FAN1, CHRNA7, KLF13, TRPM1 |
| Chronic atrial and intestinal dysrhythmia | SGO1 |
| Chronic endometritis | CRP, BAX, MMP9, MMP2, IGF1, CASP8 |
| Chronic endometritis (CE) | CD79A |
| Chronic endometritis | LEP |
| Chronic eosinophilic leukemia | PDGFRA |
| Chronic fatigue syndrome | HLA-DQB1, HLA-DRB1, IL6, IL10, COMT, HLA-DQA1, IFNG, TNF, NR3C1, IL16, CD28, DISC1 |
| Chronic glomerulonephritis | AGTR1, ACE |
| Chronic granulomatous disease | CYBB, CYBA, NCF1, TLR9, TLR5 |
| Chronic idiopathic neutropenia | TGFB1, FASLG, TNF |
| Chronic immune thrombocytopenic purpura | IL1B, TNF |
| Chronic kidney disease | AGER, KL, POSTN, APOC3, APOA4, VCAM1, FGF21, SLC34A1, AGTR1, KLK1, TLR9, AKAP12 |
| Chronic kidney failure | APOA1, HNF1A, APOE, GFPT2, NR3C1, SERPINE1, MTHFR, ESR1, ABCA1, ACE, NOS3, STX1A, ICAM1 |
| Chronic lung disease | TGFB1, TNF |
| Chronic lymphocytic leukemia | IL6, IL10, LAMA2, MBD1, TP53, FAS, TNFSF10, ATM, PTPN22, AK3, CD86 |
| Chronic myeloid leukemia | TP53, RB1, CDKN2A, RUNX1, ABL1, MECOM, MIR150, CDKN1B, CD36, SMAD4, CD40, AGT, FCGR2A, PRAME, PECAM1, GAB2, CRKL, BCL2L1, BCR, CYP3A5, ABCG2, NQO1 |
| Chronic myelomonocytic leukemia | NPM1, JAK2, SF3B1, ASXL1, KRAS, RUNX1, CBL, ZRSR2, SRSF2, U2AF1, TET2, TP53, CDKN2B, CSF3R |
| chronic neutrophilic leukemia | CSF3R |
| Chronic nonspecific multiple ulcers of the small intestine | SLCO2A1 |
| Chronic nonspherocytic anemia. | G6PD |
| Chronic obstructive pulmonary disease | SERPINA1, MBL2, CXCL11, IL18BP, ADIPOQ, HDAC8, F2, CTLA4, EDN1, MCAM, GZMB, IL16, CCL17, CXCR3, CD86, MPO, HP, CCL2, CHI3L1, BAMBI, PPARGC1A, CCR3, BCL2L1, TNF, CCL7, SFTPD, CD28, AGER, CXCL1, EGR1, CXCR2, ANG, C5, NQO1, IL1RL1, CXCL10, SELP, CCL11, C5AR1, CXCL5, CD80, IL5RA, MAP2K4, CCL22, ADRB2, NTF3, CD40, CCL8, GZMA, SERPINA3, ADRB1, CHRM3, XRCC5, DEFB1, HLA-DPB1, CYP2E1, CRHR1, SFTPB, IL27, IL13, CYBA, BDKRB2, SLC6A4, CCL1, FAM13A, EPHX1, SFTPC, HHIP, SOD3, IL13RA1, ADAM33, ELN, NOD2 |
| Chronic obstructive pulmonary disease (COPD) | EZR, AGTR1, MMP9, INSR, TNFRSF1A, TNFRSF1B, NAT2, MLH1, MGMT, HSPA1B, APOE, APOB, IL6, IL4, IL2, IL1RN, IL1B, IL1A, IL11, IL10, APAF1, IGFBP3, IFNAR2, ANXA5, ICAM1, HSPA1L, HSPA1A, HMOX1, HLA-B, TLR4, TGFB1, SOD2, PLA2G6, GDF15, GSK3B, GPX4, NOS2, AKT1, CBS, MTRR, GSTT1, GSTP1, GSTM1, GPX1, GC, TP53, VEGFA, TLR2, SOD1, CYP17A1, SLC2A1, BCL2, CYP1A1, IGF1, RAD51, RXRB, STK11, CDYL, TERF2, PHB, CAT, TERF1, PLA2G2A, TIMP1, PTGS2, BAX, CTNNB1, EGF, SERPINE2, TRPV4, AHR, HSD17B2, PTEN, MYC, TIMP2, CXCL8, CCL5, EGFR, PTGS1, BAK1, PMS2, PCNA, MDM2, TERT, CASP3, RAG1, MSH2, MMP2, HSD17B1, MEST, MBD2, IGFALS, APEX1, IGF2R, HSD17B4, CASP9, OGG1, ERCC2, ERCC1, CYP24A1, CGA, CDC25C, CDC25A, CCNA2, CASP8, TEP1, STAT1, BRCA1, RAD23B, BRCA2, SERPINA1, ABCC1, SPAG16, MMP12, AQP5, NBN, ABCB1, IFNG, COMT, SERPINE1, SLC19A1, LEPR, PPARG, NFE2L2, NFKB1, MTHFR, HFE, ALOX15, FASLG, FAS, FN1, PGR, ESR2, ESR1, ABCA1, CYP1B1, CYP1A2, CFTR, CCR5, SERPINA3, VDR, TNF, ACE, NOS3, CRP, IL6R, MYBL2, CYP19A1, CHEK1, HSD3B2, CUL3, SHBG, IL12 |
| Chronic obstructive pulmonary disease (COPD) | CFTR |
| Chronic pancreatitis | VDR, TNF |
| Chronic pelvic pain syndrome | SOD2 |
| Chronic periodontitis | IL4, IL1B, IL1A, IL10, IL18, PTGS2, ESR2, ESR1, VDR, TNF, ACE |
| Chronic progressive chorea | MTRR, OGG1, MTHFR, MTR, CBS |
| Chronic progressive external ophthalmoplegia | POLG, SLC25A4 |
| Chronic prostatitis | CRP, PLAU, FOXP3 |
| Chronic recurrent multifocal osteomyelitis | LPIN2 |
| Chronic renal failure | BAK1, SLC22A5, TNFRSF1B, HLA-DRB1, NAT2, DMPK, VWF, NGF, APOB, IL6, IL4, IL2, IL1RN, IL1B, IL1A, IL10, ICAM1, HSPA5, HSPA1L, HMOX1, HLA-B, HLA-A, TLR4, TGFB1, TYK2, PGR, CYP11B2, SHH, NOS2, ARSA, GADD45G, GSTP1, GSR, GPX1, GH1, GSTT1, GSTM1, GHRL, TP53, VEGFA, CD44, IL18, IL12A, DNAJA1, B2M, TSPO, IL6R, MTMR2, HSP90AB1, SLC2A1, PLK4, PLCG1, CYP1A1, PTPN21, DDX5, IGF1, BCL2, HSD17B3, CDC42BPA, SHBG, TDRP, CYP17A1, CAT, PTPA, PBK, HIF1A, PTGS2, BAX, PROK1, EGF, BMP4, AHR, SRD5A1, HSD17B2, CYP2B6, MYC, CXCL8, SULT2A1, CTNNB1, NPC2, DUSP6, PTGS1, PMS2, PCNA, MDM2, APEX1, IGF2R, ERBB2, CASP3, RAG1, ERCC2, CYP24A1, ERCC1, CASP9, BRCA1, SULT1A1, RAD23B, POLQ, PLAUR, ATR, NBN, IFNG, LIPE, SERPINE1, SOX10, ABCB1, HLA-C, SLC19A1, COMT, PPARG, PON2, PON1, LEPR, POLG, MTHFR, HFE, F5, FKBP1A, FRAP1, FOXM1, FLT1, FGF17, F3, F10, FAS, PLAT, ESR2, ESR1, EDNRA, CHEK1, CCR5, VDR, TNF, ACE, CYP1A2, SRD5A2, TSSK4, SOD2, NOS3, ADM, CYP19A1, KDR, TNFSF10, EME1, CCL5, CBS, XRCC1, XPC, XDH, WT1, NR1H3, NR1I2, IL5, HSD3B1, CDKN2A, IG |
| Chronic toxic encephalopathy | HMOX1, GSTT1 |
| Chronic ulcerative colitis | MIF, MLH1, ACE, HLA-DRB1, NAT2, IL1RN, IL1B, IL1A, IL10, ICAM1, HMOX1, HLA-B, HLA-A, TLR4, TGFB1, STAT4, NOS2, GSTT1, TP53, GSTP1, GSTM1, HLA-DQA1, ABCB1, HLA-C, PPARG, MTHFR, F5, CCR5, VDR, TNF, TNFAIP3, NR3C1 |
| Churg-Strauss Syndrome | HLA-DRB1, LEPR, IL10, HLA-B, HLA-A, GHRL, LEP, CCL26, VTN |
| Chylomicron retention disease | SAR1B |
| Chylothorax | ITGB1 |
| Cicatricial pemphigoid | TNF |
| Ciliary dyskinesias | DNAI1 |
| Cirrhosis | HLA-DQB1, HMOX1, TGFB1, C3, NOS2, CYP1A1, TF, CXCL8, TNFRSF1A, ABCB1, HFE, FAS, VDR, GSTP1, SOD2, ACP1, NR1I2 |
| Citrullinemia | SLC25A13, ASS1, SLC25A15 |
| CK syndrome | NSDHL |
| Classic complement pathway component defects | C1QB, C1S, C1QC, C1R, C1QA, C2 |
| clear cell adenocarcinoma | CBX7 |
| clear cell renal cell carcinoma | EP300, PDGFB, F2, AGER, SRSF7, TP53, SRSF2, ATP5PO, ENG, SRSF5, PAK4, ATP5PB, ATP5MC2, PAK6 |
| Clear cell sarcoma of soft tissue | ATF1 |
| Cleft defects | IDH1, SULT1A1, MMP9, MMP2, HSP90AA1, APEX1, ETV5, CKM, ARNT2, HNF1A, SPAM1, NR6A1, MTRR, MTR, TGFBR3, DPF3, HSF2, APOA1BP, NAT2, DMPK, LIF, APOE, APOB, TLR4, TGFB3, TGFB1, BMPR2, MTHFD1, SHH, CHD7, MIR140, RARA, TGFA, INHBA, SNAI1, TCF21, TBX1, MAFB, PAFAH1B1, CD44, CYP1A1, HIF1A, SOX5, EGF, AHR, PTEN, EGFR, CTNNB1, CHKA, ERCC2, ERBB2, BMP7, ATR, OGG1, SUMO1, NBN, PON1, MTHFR, ABCB1, FGFR2, FST, FN1, FGFR3, FGF8, FGF9, FGFR1, FGF4, FYN, ESR1, CYP1B1, PTPN11, CDH2, SLC19A1, ESR2, CYP1A2, SOX9, GSTM1, GSTP1, GSTT1, GJA1, GSTM3, GABBR2, NOS3, SMAD1, NECTIN2, OSR1, CBS, TIMP2, BMP4, STAT3, ZEB2, XRCC1, NR3C1, CDH1 |
| Cleft lip | IRF6, KIF7, NECTIN1, SDC2, FGF1, MSX1, POMT1 |
| Cleft lip and/or cleft palate | MSX1, IRF6, NECTIN1 |
| cleft palate | IRF6, FLNB, MSX1, ROR2, COL11A2, NECTIN1, SDC2, COL2A1 |
| Cleft palate, cardiac defects, and mental retardation | MEIS2 |
| Cleidocranial dysplasia | RUNX2 |
| Clitoral hypertrophy | NR5A1 |
| CLOVE syndrome | PIK3CA |
| Clubfoot | CASP8, BCL2, CASP3, CASP9, MTHFR, FLNB, HOXD13 |
| COACH syndrome | TMEM67, CC2D2A, RPGRIP1L |
| Coagulation Protein Disorders | F5 |
| Coagulopathy | SERPINE1 |
| Coats plus syndrome | STN1 |
| Cockayne syndrome | ERCC6, ERCC8 |
| CODAS syndrome | LONP1 |
| Coenzyme Q10 deficiency | COQ2, COQ8A, COQ9, APTX, PDSS2, COQ7, PDSS1, COQ6 |
| Coffin-Siris syndrome | ARID2, SMARCA4, SMARCE1, ARID1B, SMARCB1, SMARCC2, SOX11, ARID1A, SOX4, DPF2 |
| Cognitive disorder | CSF3, FGF2, DMD, APOC3, APBB2 |
| Cognitive function | APOE, IL1B, SOS1, ATP6, ACE, ATP8, MMP9, IL1RAPL1, RAF1, NRG1, NRIP1, BDNF, ND4, COMT, DAO, PPARG, FMR1, FLT1, CST3, VDR, PTPN11, ESR2, MT-CO1, GSTT1, MTHFD1, APP, NR3C1, GSTP1, GSTM1 |
| Cohen syndrome | VPS13B |
| Cold-induced sweating syndrome | KLHL7, CRLF1, CLCF1 |
| Cole disease | ENPP1 |
| Cole-Carpenter syndrome | P4HB, SEC24D |
| Collagen VI myopathy | COL6A1, COL6A2, COL6A3 |
| Coloboma | MAB21L2 |
| colon adenocarcinoma | ANXA7, SRSF5, FECH, RAC1, PIK3R3 |
| Colon adenoma | RAC1 |
| Colon cancer | PRKAA1, AURKA, HFE, VDR, MIR126, ACTR1A, PIK3R2, MAP2K3, CHAF1A, MTUS1, CASP7, PIK3R5, TDGF1, AKT3, HS3ST2, BIK, ACVR2A, NCOA6, TGFBR2 |
| Colon carcinoma | UBA52, CRKL, TLR3, TGFB2, TNFRSF17, BRAF, HPGD, TYMS, FLT3LG |
| Colonic disease | GHR |
| Colonic diseases | CFTR |
| color blindness | GNAT2, CNGB3 |
| colorectal adenocarcinoma | BIRC7, BCL2L1, HPCA, FOS, TP53, KMT2B, BRAF, UTP23 |
| Colorectal adenoma | MIR224, FOS, SMAD4, BIRC7 |
| Colorectal cancer | CHEK1, HLA-DQB1, HLA-DRB1, RAD51, MLH1, TGFA, BAX, PLA2G2A, HLA-DQA1, FGF4, TP53, SMURF1, DKK3, CTNNB1, GSTM3, AREG, SMAD4, KRAS, MSH6, DCC, EREG, SMAD2, TGFBR2, GALNT12, APC2, BAMBI, HNRNPK, HSPA8, EEF1E1, WRAP53, CXCL5, TGFB2, HDAC5, PIK3R1, HNRNPU, MIR200C, HDAC3, L1CAM, HDAC7, BRIP1, AKT2, ANTXR1, CTPS2, ATF7, RAC1, ADGRB1, KDM3B, GCLC, MIR224, MIR30B, KIF18A, BARHL2, SERPINA1, TNFSF9, MAPK9, PIK3CD, F7, KDM4B, CYP2E1, CTNNBL1, TRPV3, BUB1, JAK1 |
| colorectal carcinoma | CHI3L1, CALU, SMAD4, PSMB9, CBX7, ACTR2, ITGB3, ACTR3, HNRNPM, AKAP12, ANTXR1, STRAP, CD59, MSH6, TP53, MBD4 |
| Combined D-2- and L-2-hydroxyglutaric aciduria | SLC25A1 |
| Combined deficiency of factors V and VIII | MCFD2, LMAN1 |
| Combined deficiency of vitamin K-dependent clotting factors | VKORC1 |
| Combined immunodeficiencies | CD8A |
| Combined immunodeficiency | RFX5, BCL10, TAP1, CTPS1, PNP, TAP2, ZAP70, TNFRSF4, CD3G, IKBKB, IL2RG, RFXAP, CIITA, RFXANK, LCK, CARD11, CD40, DOCK2, STIM1, RAG2 |
| Combined lipase deficiency | LMF1 |
| Combined malonic and methylmalonic aciduria | ACSF3 |
| Combined oxidative phosphorylation deficiency | GFM1, FARS2, MRPL3, MRPS22, TRMT5, ELAC2, CARS2, TRMT10C, AARS2, MTFMT, AIFM1, C12orf65, GTPBP3, MRPS16, MTO1, TSFM, PNPT1, TUFM, LYRM4, MIPEP, NARS2, TARS2, RMND1, MRPS34, MRPL44, TXN2, SLC25A26, EARS2, VARS2, C1QBP |
| Combined oxidative phosphorylation deficiency 22 | ATP5A1 |
| Combined pituitary hormone deficiency | POU1F1, OTX2, LHX3, HESX1, LHX4 |
| Combined proximal and distal renal tubular acidosis | CA2 |
| Combined SAP deficiency | PSAP |
| common bile duct neoplasm | FSCN1, MTAP, MUC4, MSLN, TYMP |
| Common variable immunodeficiency | IL1RN, IL1A, IL2, IL12A, RAG1, LRBA, IKZF1, CD81, NFKB2, IRF2BP2, MS4A1, CR2, TNFRSF13C, TNFRSF13B, CD19, PECAM1, FCGR2A, DCLRE1C, IL21R, MBL2 |
| Complement regulatory protein defects | CD55, C4BPB, CD59, SERPING1, CFI |
| Complete androgen insensitivity syndrome (CAIS) | SOX9, WT1, PTGDS, AMH, AR |
| Complete gonadal dysgenesis (CGD) | NR5A1 |
| Complete maturation arrest | MOV10L1 |
| Complete mullerian agenesis | AMH |
| Complete transposition of the great arteries | MED13L, GDF1 |
| Complete testicular feminization | AR |
| Complex cortical dysplasia with other brain malformations | KIF5C, KIF2A, CTNNA2, TUBB2A, TUBB, TUBG1, FOXP1 |
| Complex lethal osteochondrodysplasia | TAPT1 |
| Complex Regional Pain Syndromes | HLA-DRB1, HLA-A |
| Compromised fertilizing ability | CATSPERE, C1orf101 |
| Conduct disorder | SLC6A1, DRD4, HTR1B |
| Cone-rod dystrophy | CRB1 |
| Cone-rod dystrophy and cone dystrophy | TTLL5, RPGRIP1, RPGR, RIMS1, ABCA4, PITPNM3, CDHR1, GUCA1A, RAB28, DRAM2, ADAM9, POC1B, C8orf37, RAX2, KCNV2, GUCY2D, CRX, CACNA2D4 |
| Congenital abnormalities | SLC19A1, VEGFA, ACE, CD44, HLA-DQA1, TNFRSF1A, MTHFR, CYP21A2, CFTR, NOS3, CBS, MTR, MTHFD1, MTRR, CYP11B1, BAT3, GATA4 |
| Congenital absence of the uterus and vagina (CAUV) | CFTR |
| Congenital absence of the vas deferens | EDNRA, TGFB1 |
| Congenital absence of the vas deferens (CAVD) | CFTR, TGFB1, EDNRA |
| Congenital absence of vas deferens (CAVD) | ADGRG2 |
| Congenital adrenal hyperplasia | PON1, HLA-DRB1, HLA-DQA1, HLA-B, TNFRSF1B, CYP17A1, CYP21A2, SOX3, BMP15, CYP11A1, SOX9, HSD3B2, CYP11B2, CYP11B1, SOX10, FSHR, AR, SRY, HLA-A, NR3C1, IGF2, STAR, POR |
| Congenital adrenal hyperplasia (CAH) | CYP11B1 |
| Congenital adrenal hypoplasia | NR0B1 |
| Congenital adrenal insufficiency | CYP11A1 |
| Congenital afibrinogenemia | FGG, FGB, FGA |
| Congenital amegakaryocytic thrombocytopenia | MPL |
| Congenital anomalies of kidney and urinary tract | DSTYK |
| Congenital aplasia of epididymis and vas deferens | CFTR |
| Congenital arthrogryposis with anterior horn cell disease | GLE1 |
| Congenital asplenia | RPSA, GDF1 |
| Congenital aural atresia | TSHZ1 |
| Congenital bilateral absence of the vas deferens (CBAVD) | CFTR, NOS2, EDNRA, MMP2, ADGRG2, LAMB1, SLC9A3, PANK2, ADGRG2 |
| Congenital bilateral absent vas deferens (CBAVD) | LAMA5 |
| Congenital bile acid synthesis defect | AMACR, HSD3B7, ACOX2, AKR1D1 |
| Congenital cataracts, facial dysmorphism, and neuropathy | CTDP1 |
| Congenital central hypoventilation syndrome | GDNF, PHOX2B, ASCL1, RET, EDN3 |
| Congenital contractural arachnodactyly | FBN2 |
| Congenital diaphragmatic hernia | ZFPM2 |
| Congenital diarrhea | SLC26A3, EPCAM, SPINT2, DGAT1, MYO5B |
| Congenital disorder of glycosylation | B4GALT1 |
| Congenital disorder of glycosylation type IIc | SLC35C1 |
| Congenital disorders of glycosylation type I | ALG2, NGLY1, SRD5A3, ALG8, STT3B, PGM1, DPAGT1, STT3A, MPI, NUS1, DDOST, SSR4, ALG13, ALG1, DPM2, RFT1, ALG3, DOLK, DPM1, CAD, MPDU1 |
| Congenital disorders of glycosylation type II | SLC35A1, TMEM165, COG4, TMEM199, SLC39A8, CCDC115, B4GALT1, COG8, COG1, COG7, MGAT2, SLC35C1, SLC35A2, COG2 |
| Congenital dyserythropoietic anemia type I (CDAI) | CATSPER2, STRC |
| Congenital dyserythropoietic anemias | SEC23B, CDIN1 |
| Congenital fiber type disproportion | TPM3, SELENON |
| Congenital fibrosis of the extraocular muscles | TUBB3, PHOX2A, COL25A1 |
| Congenital generalized lipodystrophy | LMNA, BSCL2, CAV1, AGPAT2, CAVIN1 |
| Congenital glucose-galactose malabsorption | SLC5A1 |
| Congenital heart defects | CKM, TBX1, CBS |
| Congenital heart defects, multiple type | GATA5, TAB2, ZIC3, GDF1 |
| Congenital heart disease | SP4, MKKS, FOXP1, NKX2-5, TDGF1, JAG1 |
| Congenital hemidysplasia with ichthyosiform nevus and limb defects | NSDHL |
| Congenital hemolytic anemia | GPI, HBB, SLC4A1 |
| Congenital hereditary endothelial dystrophy | SLC4A11 |
| Congenital hydrocephalus | MPDZ, CCDC88C, L1CAM |
| Congenital hyperthyroidism | TSHR |
| Congenital hypogonadotropic hypogonadism | LHRH, GNRHR, PROK2 |
| Congenital hypogonadotropic hypogonadism (CHH) | INSL3, SPRY4, KAL1, INHBA, DUSP6, PROK2, TACR3, SEMA7A, FGF17, FLRT3, FGFR1, AMH, GNRH1, GNRHR, IL17RD, TAC3 |
| Congenital hypogonadotropic hypogonadism (nCHH) | TACR3 |
| Congenital hypogonadotropic hypogonadism | INHB |
| Congenital hypomyelinating neuropathy | MPZ, EGR2, CNTNAP1 |
| Congenital hypothyroidism | SLC5A5, DUOX2, TPO, PAX8 |
| Congenital hypotrichosis with juvenile macular dystrophy | CDH3 |
| Congenital intrinsic factor deficiency | CBLIF |
| Congenital isolated hypogonadotropic hypogonadism (IHH) | FGFR1 |
| Congenital lactase deficiency | LCT |
| Congenital mirror movements | DCC, DNAL4 |
| Congenital motor nystagmus | FRMD7, GPR143 |
| Congenital muscular dystrophies | TRIP4, ITGA9, ITGA7 |
| Congenital muscular dystrophy type 1C | FKRP |
| Congenital muscular dystrophy type 1D | LARGE1 |
| Congenital myasthenic syndrome | ALG2, ALG14, RAPSN, GFPT1, CHRNE, DPAGT1, SLC18A3, VAMP1, SLC25A1, CHRNB1, CHRND, MYO9A, SNAP25, PREPL, SLC5A7, SCN4A, CHAT, DOK7, AGRN, LRP4, SYT2, COL13A1, CHRNA1 |
| Congenital myasthenic syndrome 1A | CAST |
| Congenital myasthenic syndrome 6 | CHAT |
| Congenital nephrogenic diabetes insipidus | AQP2, AVPR2 |
| Congenital nongoitrous hypothyroidism | PAX8, TSHB, TSHR, NKX2-5, THRA |
| Congenital nonspherocytic hemolytic anemia | AK1, GPI, PKLR |
| Congenital nystagmus | MYO7A |
| Congenital or acquired obstruction of the vas deferens | MCP |
| Congenital polycythemia | EGLN1, EPAS1, VHL, EPOR |
| Congenital primary aphakia | FOXE3 |
| Congenital prothrombin deficiency | F2 |
| Congenital pulmonary alveolar proteinosis | CSF2RB, SFTPB, SFTPC, ABCA3 |
| Congenital short bowel syndrome | CLMP |
| Congenital stationary night blindness | NYX, GNB3, SAG, GRM6, CABP4, TRPM1, PDE6B, RHO, GRK1, SLC24A1, TRPV3 |
| Congenital stromal corneal dystrophy | DCN |
| Congenital structural myopathy | ANKRD1, MTM1 |
| Congenital sucrase-isomaltase deficiency | SI |
| Congenital supravalvar aortic stenosis | ELN |
| Congenital symmetric circumferential skin creases | TUBB |
| Congenital systemic glutamine deficiency | GLUL |
| Congenital vertical talus | HOXD10 |
| Congenital absence of the uterus and vagina (CAUV) | AMHR2, AMH, WT1 |
| Congenital adrenal hyperplasia | AMH, CYP11B2, CYP17A1, CYP21 |
| Congenital adrenal hypoplasia | DAX1, NR5A1 |
| Congenital bilateral absence of the vas deferens (CBAVD) | EDNRA, NOS2, PANK2 |
| Congenital hypogonadotropic hypogonadism | SEMA3A, SEMA3A , AMH, INSL3, SEMA7A |
| Congenital or acquired obstruction of the vas deferens | MCP |
| Congenital unilateral absence of the vas deferens (CUAVD) | CFTR |
| congestive heart failure | UCN2, FOXC2, EDN1, ADIPOQ, HMGB1, ANKRD23, GRK5, AOC3, AGER, HAMP, GRK2, UTS2, RRAD, GRK3, AGT, CHI3L1, TOMM70, CFLAR, PLA2G7, APOA1, PPP2CA, OPA1, POSTN, FOXP4, FOXC1, UCN, NME2, TNF, ESRRA, RAPGEF3, KCNE1, CBL, ECE1, SLC2A4, SRF, MYH6, ADRB3, FOXP1, EPO, PRKAR2A, YY1, EP300, NISCH, SLC9A1, EYA4, ADRA2C, SLC6A4, ADRB1 |
| Conn's syndrome | CYP11B2 |
| Connect the differentiating spermatid nucleus to surrounding cytoskeletal structures to enable its well-directed shaping and elongation, which in turn is a critical parameter for male fertility | SYNE3, SUN1, SUN3 |
| Connective tissue disease | SNRPC, SNRPA1, SNRPB2, SNRPD1, SNRPA |
| Connective tissue diseases | CYP1A1, COL1A1, NAT2, TNFRSF1B, MMP9, MMP2, IL6, IL4, IL2RA, IL1RN, IL1B, IL1A, IL10, IGFBP3, IFNG, HSPA1L, HSPA1B, HSPA1A, TLR4, TGFB1, IL2, CYP11B2, VEGFA, IGF1, PTGS2, ACE, IL6R, CXCL8, PTGS1, EPHX2, SERPINE1, TNFRSF1A, PON2, PON1, MTHFR, F5, FASLG, FAS, PLAT, TNF, PGR, TLR2, IL18, NOS3, CYP19A1, HSPA4, CBS, IL5, MTHFD1, NR3C1, CRP, GSTT1, GSTP1, IL1R2 |
| Constitutional delay of growth and puberty | INHBA, AMH, INHB |
| Contributes to cytoplasmic preassembly of dynein complexes in spermatogenic cells | PIH1D3 |
| Contributes to establishing the balance between Sertoli and germ cell number that is ultimately required for adult male fertility | INHB |
| Contributes to human spermatogenic failure with Maturation arrest | MIR383 |
| Contributes to the fidelity of male meiosis I and spermiogenesis | PARP2 |
| Controlled ovarian hyperstimulation | ESR1, ESR2, AMH |
| Controls Sertoli cells and germ cell adhesion | ERBB4 |
| Controls SNARE protein complex assembly during human sperm acrosomal exocytosis | STXBP1 |
| Controls sperm formation | IFT27, HSPB11 |
| Controls sperm formation, Male infertility | HSPB11 |
| Cor pulmonale | AGER, TNF |
| Core neuroacanthocytosis syndromes | VPS13A, PANK2, JPH3 |
| Cornea plana congenita | KERA |
| Corneal diseases | IL10, TGFB1, MTOR |
| Corneal dystrophy | VSX1, TACSTD2, TGFBI, ELOVL4, KERA |
| Corneal neovascularization | FGF2, TNFAIP6, SERPINF1 |
| Cornelia de Lange syndrome | SMC3, HDAC8, NIPBL, RAD21, SMC1A |
| Cornelia de Lange syndrome 5 | HDAC8 |
| Coronary aneurysm | HLA-G, HLA-E, ADIPOQ |
| Coronary artery disease | KALRN, LRP6, CX3CR1, CD36, TNFRSF11B, HP, EDN1, PLA2G7, NAMPT, APOA1, CCL2, SERPINA1, NGFR, MIR223, CDH5, CCL26, THBD, ENG, F7, TEK, IL15, ADIPOQ, VTN, SPP1, AGER, TTN, FGF2, ECE1, CHI3L1, SERPINF2, CCR1, LIPG, SOD3, F2, HMGCR, ESR1, IL1RL1, PECAM1, APOC3, PPARA, TP53, FCGR2A, ADRB3, LIPC, TNF, LTA, NOD2, OLR1, PTPN22, CYBA, GCK, AHSG, APOM, CLCN6, APH1B, LPL, KL, GJA4, ABCC6, PARL, AGTR1, IRS1, ALOX5AP, APOA5, BCHE, FGB, PNPLA3 |
| Coronary heart disease | ABCA1, ADAMTS1, APOA1, AGTR1, AQP5, PON1, DNM2, APOE, IL4, HMOX1, USF1, MEFV, VEGFA, MYB, RHOB, RHOA, BAT2, CALM1, SNAI2, SHBG, TCF21, PDZK1, PAFAH1B1, ACE, PLA2G2A, CYP11B2, DYNC2H1, IL6ST, EPHX2, DNAH11, MEF2A, HNF1A, HSPD1, NEUROG3, AR, FN1, USP24, PLTP, GC, G6PD, GSK3A, CTCF, CRP, SPRY4, IL6R, RXRA, SLC2A9 |
| Coronary restenosis | CXCL10, CXCR3, SPP1, TNF, ITGB2, TP53, BCHE, MBL2, UCP3 |
| Coronary stenosis | TNFRSF11B, EDN1, PECAM1 |
| Corpus callosum agenesis with facial anomalies and cerebellar ataxia | FRMD4A |
| Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | IGBP1 |
| Cortisone reductase deficiency | HSD11B1, H6PD |
| Costello syndrome | HRAS |
| Could be involved in the regulation by Sertoli cells of germ cell maturation | WT1 |
| Coumarin resistance | CYP2A6, VKORC1, CYP2C9 |
| Cousin syndrome | TBX15 |
| Cowchock syndrome | AIFM1 |
| Cowden syndrome | SDHB, PIK3CA, PTEN, SEC23B, SDHD |
| Cranio-lenticulo-sutural dysplasia | SEC23A |
| Cranioectodermal dysplasia | WDR19, WDR35, IFT43, IFT122 |
| Craniofacial abnormalities | PTEN |
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | TMCO1 |
| Craniofrontonasal syndrome | EFNB1 |
| Craniometaphyseal dysplasia | GJA1, ANKH |
| Craniopharyngioma | PDGFRA |
| Craniosynostoses | TWIST1, ALX4, ERF, MSX2 |
| Craniosynostosis | FGFR2, FGFR3, FGFR1, BBS9, MSX2 |
| Craniosynostosis and dental anomalies | IL11RA |
| Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies | CYP26B1 |
| CREST syndrome | FBN1 |
| Creutzfeldt-Jakob disease | APOE, CTSD, MEFV, HLA-DQB1, S100B, SNCA, PRNP |
| Critical for germ cell survival | CREB1 |
| Critical function in spermatogenesis | TSGA10 |
| Critical regulator of adult Sertoli cell function and is required for both its cytoarchitectural and paracrine interactions with germ cells | SOX8 |
| Critical role in spermatogenesis | PPP1CC, PPP1CC2 |
| Crohn disease | TNFSF15, IL10RA, NOD2, IL23R, IRGM, SLC22A4, IL10RB, ATG16L1 |
| Crohn's disease | IL2RA, LIN28B, DNAH12, HORMAD2, NRIP1, CRP, MTRR, MLH1, HLA-DQB1, HLA-DRB1, NAT2, SLC22A5, MMP9, KIR2DL2, JUN, IL6, IL4, IL2, IL1RN, IL1B, IL10, ICAM1, HSPA1B, HLA-G, HLA-B, TLR4, TCF7L2, DNMT3A, SLC19A1, IL21, RNASET2, TYK2, NOS2, IL11, IP6K1, RHOA, SPAG17, TIMP1, CYP1A1, CDH1, MDM2, CASP9, HLA-DRA, HLA-DQA1, IL23A, MIF, SERPINE1, TNFRSF1B, COMT, MMP2, PPARG, PON2, PON1, NFKB1, MTHFR, ABCB1, F5, FCGR3A, FASLG, FAS, NLRP14, DAO, CCR5, VDR, TNFRSF1A, TNF, TP53, IL18, NOS3, CFTR, TLR2, HSPA2, GSTP1, GSTM1, GSTT1, GPX1, TIMP2, NR1I2, MEFV, MTR, NR3C1, STAT3, CD40, ADIPOQ, APOA4, ALPI, FGA, THBD, F2, MKI67, CLDN1, NOD2, BPI, IL21R, LRRK2, SELL, SLC11A1, HLA-DPA1, MBL2, PTPN22, FCGR2A, JAK2, IL23R |
| Crouzon syndrome | FGFR2, FGFR3 |
| Crucial for meiosis during spermatogenesis in R. norvegicus | SPDYA, LM23 |
| Crucial for spermatogenesis | ASZ1 |
| Crucial for testis development and spermatogenesis | PPP2R3C |
| Cryoglobulinemia | FN1, HLA-DRB1, TCN2, TNF, CD86, IFNL3, IFNL4 |
| Cryohydrocytosis | SLC4A1 |
| Cryopyrin associated periodic syndrome | NLRP3 |
| Cryporchidism | TP53 |
| Cryptorchid | EGFR |
| cryptorchid boys | EGFR |
| Cryptorchid testes | CD-99 |
| Cryptorchidism | LHCGR, RXFP2, WT1, HLA-DRB1, KIR2DS2, KIR2DL2, Hsp70-1, PROP1, SHH, DAZ, ARNT2, CGB3, CDY1, FGFR1, INSL3, INHBA, CYP17A1, KAL1, SHBG, EGF, AR, AHR, EGFR, ATF3, LDOC1, NR5A1, TDRD9, CYP11A1, PAX2, PIWIL4, MAEL, MIR135B, AMH, MOV10L1, PIWIL2, CD99, FAS, FSHR, FoxO1, ESR1, ESR2, CYP1A2, DDX4, SRD5A2, CFTR, GREAT, GTSF1, NR1I2, CYRIB, PARP1, RLF, HOXD13, ADA, GAGE12F, NR2E3, NAALAD2, SNORD116-2, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-28, NAALADL1, GNPDA1, POM121C, GAGE8, SNORD105B, TEC, FAM86JP, MIR298, MIR220B, MIR891B, MIR541, MIR147B, MIR665, MIR216B, MIR935, MIR708, MIR543, MIR208B, MIR937, MIR891A, MIR889, MIR939, MIR365A, SNAR-G1, LOC100128239, DNM1P35, LOC100128288, C19orf71, HPN-AS1, LINC00476, SRRM2-AS1, MAPT-AS1, LOC100129034, LOC100129055, LOC100129534, LOC100129637, URAHP, LOC100130093, LOC100130238, C17orf107, LOC100130331, LINC00552, PP14571, PARD6G-AS1, LINC00910, LOC100130872, LOC100130987, LOC100131541, MZF1-AS1, RRN3P3, LOC100132215, NPIPB5, KIR2DS2 , TEKT4P2, GAGE12D, KRTAP4-7 |
| Cryptorchidism, Male infertility | GTSF1, ADAMTS16, CHD7 |
| Cryptorchidism, Obstructive azoospermia, Male infertility | MIR548O, MIR449C, MIR3615, MIR203B, MIR4700, MIR548AE2, MIR550A3, MIR548AD, MIR4423 |
| Cryptozoospermia | DDX3Y, DMRT1, PRM2, NR5A1, PRM1, CASP3, USP26, PGR, CFTR, TDRD9 |
| Currarino syndrome | MNX1 |
| Cushing syndrome | AIP, MC2R, ARMC5, MEN1, APC, CDKN1B, PDE11A, FH, GPR101, PDE8B |
| Cushing's syndrome | VWF, PRKAR1A, PRKACA, GNAS |
| Cutaneous and mucosal venous malformation | TEK |
| Cutaneous lupus erythematosus | CD40, CCR3 |
| Cutaneous malignant melanoma | TGFA |
| Cutaneous neonatal lupus | HLA-DQB1, HLA-DRB1 |
| cutaneous porphyria | FECH, UROS |
| Cutaneous T cell lymphoma | CCR6, CCL20, CCL26, CDKN2B |
| Cutaneous telangiectasia and cancer syndrome | ATR |
| Cutaneous vasculitis | MIF |
| Cutis laxa | ATP6V0A2, ITGA6, ATP6V1E1, FBLN5, ALDH18A1, PYCR1, ELN, EFEMP2, LTBP4, ATP7A |
| Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | LTBP4 |
| Cystadenoma | ALDOA |
| Cystathioninuria | CTH |
| Cystic fibrosis | CLCN2, SPINK1, IL6, IL1RN, IL1B, IL1A, IL10, TGFB1, TNFRSF1A, IL2, NOS2, SERPINA1, CYP21A2, PTGS2, ACE, EDNRA, TF, CXCL8, PTGS1, OGG1, CFTR, USP9Y, MIF, HFE, ABCB1, TNF, TLR4, AMH, NOS3, GSTT1, GSTP1, GSTM3, GSTM1, MEFV, XRCC1, NR3C1, ABCC1, AGER, SFTPB, CXCR3, PTGDR2, CCL11, CSF3R, EDN1, CXCL2, IL13, ADRB3, HAVCR2, DEFB4A, MUC2, ADRB1, CCL2, IL9R, SFTPC, MBL2, CXCL1, IL18BP, CCR3, TLR5, ADRB2, CCL17, SFTPD, C5, PPARA, MPO, SERPINA3, HSPA1A, GCLC, LTA, TLR9 |
| Cystic kidney disease | RPGRIP1L |
| Cystinosis | CTNS |
| Cystinuria | SLC3A1, SLC7A9 |
| Cytochrome c oxidase | COA8, SCO1, FASTKD2, PET100, LRPPRC, COX6B1, COX20, COX2, COA5, COX14, SCO2 |
| Cytochrome-c oxidase deficiency disease | SCO2, SCO1 |
| Czech dysplasia | COL2A1 |
| D-2-hydroxyglutaric aciduria | D2HGDH, IDH2 |
| D-glyceric aciduria | GLYCTK |
| Danon disease | LAMP2 |
| Darier disease | ATP2A2 |
| DDOD syndrome | ATP6V1B2 |
| Deacetylation of microtubules in mouse spermatogenic cells during meiosis | MAPT |
| Deafness | TRNL1, CATSPER2, ADCY1, STRC, CDC14A, HGF, MYO15A, KITLG, FGF3, WFS1 |
| Deafness and myopia | SLITRK6 |
| Deafness, autosomal dominant | MIR96, GSDME, MYH14, COL11A2, CCDC50, HOMER2, REST, OSBPL2, DMXL2, GJB3, DIAPH1, MYO6, TECTA, CD164, EYA4, ACTG1, TNC, DIABLO, SIX1, KCNQ4, MYH9, TMC1, GJB6, MYO7A, P2RX2, MCM2, TBC1D24, CEACAM16, COCH |
| Deafness, autosomal recessive | CLDN14, SLC26A4, ELMOD3, KARS1, GPSM2, MSRB3, ILDR1, SERPINB6, ESRP1, MPZL2, COL11A2, DCDC2, USH1C, GJB3, SLC26A5, OTOF, MYO6, ESPN, EPS8, PJVK, TECTA, GAB1, PPIP5K2, CIB2, LOXHD1, CLIC5, RDX, TMPRSS3, S1PR2, LRTOMT, TRIOBP, MYO3A, TPRN, SYNE4, OTOGL, TMC1, GJB6, LHFPL5, TMIE, WHRN, WBP2, MYO7A, CABP2, TSPEAR, CDH23, ESRRB, TBC1D24, PCDH15, COCH, RIPOR2, OTOA |
| Deafness, dystonia, and cerebral hypomyelination | BCAP31 |
| Deafness, X-linked | PRPS1, AIFM1, COL4A6, POU3F4 |
| Deafness-dystonia-optic neuronopathy syndrome | TIMM8A |
| Decidualization | FKBP4, EGFR, IL11 |
| Decrease sperm motility | PON1 |
| Decreased libido | HFE |
| Decreased libido, erectile dysfunction | HFE |
| Decreased sperm concentration | PON2 |
| Decreased sperm motility | NOS3 |
| Decreased sperm quality | VCP |
| Decreased spermatogenesis | TGFA, TF, SLC2A9 |
| Decreased spermatogenesis, Sertoli-cell-only syndrome | TP53 |
| Decreased ovarian reserve (DOR) | INHBA, FMR1, AMH |
| Deep infiltrating endometriosis | INHA, IL6, IL10, IFNG, HSD17B2, VEGFA, FST, TNF, PGR, CA125, KDR, WT1 |
| Deep vein thrombophilia | MTHFR |
| Deep vein thrombosis | SERPINC1, PROC, PROS1 |
| Deep venous thrombosis | MTHFR |
| Defective endometrial receptivity | TNF-R, ICAM1, LEP, FOXP3, CD8A, HSPA5 |
| Defective human spermatozoa | H19, CDKN2A, MEST, FAM50B, GNAS, L1RE1, P16, L1TD1 |
| Defective speramtogenesis | VPS54 |
| Defective sperm annulus | SEPTIN12, SEPT12 |
| Defective spermatogenesis | AR, VPS54, NFE2L2, GOLGA3 |
| Defective spermatogenesis | AR |
| Defective spermatogonial differentiation | Utp14b |
| Defective uterine receptivity | ITGA4, ESR1 |
| Defects in RecQ helicases | BLM, RECQL4 |
| Defects in the degradation of ganglioside | HEXB, GLB1, GBA |
| Defects in the degradation of sphingomyelin | ASAH1, SMPD1 |
| Defects in the degradation of sulfatide | ARSA |
| Defects of male sexual differentiation | AMH |
| Deficient sperm motility | CATSPER1 |
| Degenerative arthropathy | HLA-DRB1, IL4, IL1RN, IL1B, IL1A, IL10, IFNG, IL1R2, ADAMTS5, HFE, ESR1, VDR, ESR2, CYP19A1, GPX1, CRP |
| Degenerative disc disease | POSTN, ASPN |
| Dehydrated hereditary stomatocytosis | KCNN4, PIEZO1 |
| Dejerine-Sottas disease | PMP22, MPZ, PRX, EGR2 |
| Delayed implantation | PGR, ITGAV |
| Delayed puberty | PROP1, IGFALS, GNRHR |
| Delayed sleep phase syndrome | CRY1, AANAT |
| Delayed sleep phase syndrome. | HLA-DRB1 |
| Delirium | APOE |
| Dementia | AGTR1, PARK7, MMP9, LIF, APOE, IL1B, IL1A, TGFB1, VEGFA, MAPT, TARDBP, VCP, ACE, AHR, APP, BDNF, IGF1R, SERPINE1, PON1, MTHFR, ABCB1, ESR1, ABCA1, CST3, TNF, ICAM1, ESR2, NOS3, PLTP, SERPINA3, BCHE, ADIPOQ, NPY, PLA2G7, HMGCR, GRN, LRPAP1, VLDLR, NOTCH4 |
| Demyelinating disease | CD80, KLK6 |
| Dent disease | OCRL, CLCN5 |
| Dentatorubral-pallidoluysian atrophy | AR |
| Dentin dysplasia | SMOC2 |
| Denys-Drash syndrome | WT1 |
| Depression | AGTR1, APOE, APOB, IL6, IL1RN, IL1B, LEP, CREB1, HTR2A, NPAS2, ACE, CYP1A2, PTGS2, NR3C1, ITGB1, NTRK3, NRG1, BDNF, CLOCK, SERPINE1, COMT, PPARG, PON1, MTHFR, ABCB1, NLGN1, ESR2, AR, GNAS, GSK3B, GHRL, GNA12, OXTR, MTR, MTHFD1, CRP, SLC6A1 |
| Dermatitis | HLA-DQB1, HLA-DRB1, NAT2, NGF, IL6, IL4, IL1RN, IL1B, IL1A, IL10, IFNG, HLA-B, HLA-A, TLR2, CXCL8, S100A9, KIF3A, BDNF, HLA-DQA1, NFKB1, TNF, IL18, SOD2, C3, TLR4, GSTT1, GSTP1, GSTM1, CCL5, IL5, STAT3, FGF2, IKBKB, IL13, ADRB2 |
| Dermatitis herpetiformis | ELN, LTA, TNF |
| Dermatofibrosarcoma protuberans | PDGFB |
| Dermatomyositis | HLA-DQB1, HLA-DRB1, IL1B, IL1A, IL10, HLA-DRA, HLA-B, HLA-DQA1, TNF |
| Dermatopathia pigmentosa reticularis | KRT14 |
| DeSanto-Shinawi syndrome | WAC |
| Desbuquois syndrome | XYLT1, CANT1 |
| Desmosterolosis | DHCR24 |
| Development of spermatids | LRRC8A |
| Development of spermatids, Male infertility | LRRC8A |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | DPH1 |
| Diabetes | IL2RA, TSC22D3, AQP7, RTL1, HGF, AGTR1, ADCYAP1, A2M, HNF1A, SPINK1, MMP9, HLA-DQB1, HLA-DPB1, NAT2, HLA-DRB1, PDCD1, INSR, ABCA1, APOA1, MMP2, MIF, LMNA, LEPR, MT-CO3, KIR2DS2, KIR2DL2, APOE, APOB, IL4, IL1RN, IL1B, IL1A, IL10, IFNG, ANXA5, HSPA1L, HSPA1B, HLA-G, HLA-DRA, HLA-B, HLA-A, TGFB1, MSH5, TCF7L2, STAT4, KCNK17, ANK1, TNFRSF1A, IL2, IL21, PTPN11, PRF1, SOS1, SLC22A5, CYTB, SOX2, ATP6, NOS2, USF1, CYP11B2, B2M, VEGFA, LEP, GC, GSTT1, G6PD, GSTP1, GALNT3, GLIS3, GPD2, GFPT2, SOD2, SOD1, TRNL1, PLIN, SLC2A1, RHOA, HSPA1A, CREB1, RXRB, STK11, BAT2, DCDC2C, BNC2, IL12A, IGF1, HK1, KCNQ1, BCL2, PIK3CB, ADM, SHBG, PRKAA1, MED1, DAXX, CYP1A1, TP53, SIRPG, CHEK2, CFTR, ACE2, SRD5A2, HLA-E, HIF1A, MTRR, SRD5A1, CAT, CD69, ACE, ALB, CXCL8, EGF, PTGS2, TLR2, DCN, PIK3CA, STAT3, NR5A1, IGF1R, IGF2, MBD2, HNF1B, IGF2R, HSD17B1, EPHX2, CYP24A1, CASP9, CASP3, SLC13A3, PRM3, OGG1, NTRK1, ADCY3, PLTP, VAMP2, IL6, HLA-DQA1, PPARG, CDKN2A, FTO, PLAGL1, MEF2A, MAS1, MAPK8, HSPB1, CASP8, ETV5, BMP7, BGLAP, NRF1, NRG1, LI |
| Diabetes insipidus | AVP |
| diabetes mellitus | FUCA1, HP, APOH, APOC3, MIR223, MMP10, ARPC3, GGT1, AGER, TFPI, SERPINA7, SLC2A3, INS, UCP3, ITGA2, SOD3, GIPR, HMGCR, CYP2C9, PTPN22, CDKAL1, GCK, CTSB, SLC19A2, MT-ND4L |
| Diabetic angiopathy | GP1BA, MMP14, CD28, TNF, IGFBP1, CXCL12 |
| Diabetic encephalopathy | IDE |
| Diabetic ketoacidosis | SERPINA7, AQP2 |
| Diabetic nephropathy | MBD2, APOE, TGFB1, LIMK2, ACE, SOD2, SERPINE1, MTHFR, CCR5, TNF, NOS3 |
| Diabetic neuropathy | GSTT1, GSTM1, GPX1, NOS3, CAT, SOD2, F7, GGT1, VCAM1, CD63, FGF2, EPO, UCP2, ALDH2, ADRA2B, UCP3, AKR1B1 |
| Diabetic retinopathy | MMP9, MMP2, PON1, NOS3, HFE, EPO, CCL2, AGER, ENPP2, PDGFB, SERPINF1, TIMM44, ADIPOQ, TNF, EDN1, ITGB3, VCAM1, GGT1, UTS2, SERPINA4, APOH, FGF2, NUTF2, AOC3, CXCL10, APOC3, VTN, F7, CXCL12, ENG, APOA4, ANG, ELN, SOD3, INS, ANGPT1, BDKRB1, BDKRB2, CFH, AKR1B1, GLO1, ITGA2, ADRB3, AGT, CFB, LTA, MYSM1, SGF29 |
| Diamond-Blackfan anemia | RPS7, RPL5, RPS10, RPL15, RPL11, RPL35A, RPS19, RPS29, RPS28, RPS24, RPS17, TSR2, RPL26 |
| Diaphanospondylodysostosis | BMPER |
| Diaphyseal dysplasia with anemia | TBXAS1 |
| Diastrophic dysplasia | SLC26A2 |
| Dicarboxylic aminoaciduria | SLC1A1 |
| Differentiation in spermatogonial cells in mouse | CNNM1, CNNM1 |
| diffuse large B-cell lymphoma | BCL6, MKI67, CARD11, CD40, FCGR2A, IL21R |
| Diffuse panbonchiolitis | HLA-DRB1, HLA-DRA, HLA-B, HLA-A |
| Diffuse scleroderma | ADIPOQ, CXCL5, AGT, FCGR2A, TAP2, BANK1, IL13, CAV1, TAP1, IRAK1 |
| DiGeorge anomaly | PARP1, LDOC1 |
| DiGeorge syndrome | TBX1, COMT, LDOC1, PARP1, UFD1, ARVCF, DVL1 |
| Dihydrofolate reductase deficiency | DHFR |
| Dihydrolipoamide dehydrogenase deficiency | DLD |
| Dihydropyrimidinase deficiency | DPYS |
| Dihydropyrimidine dehydrogenase deficiency | DPYD |
| Dilated cardiomyopathy | TAZ, HLA-DQB1, HLA-DRB1, HLA-DQA1, LMNA, HLA-DPB1, TPM1, DES, TCAP, GATAD1, DMD, NEXN, MYBPC3, ACTC1, ACTN2, TTN, PSEN1, ABCC9, TMPO, SGCD, PLN, CSRP3, EYA4, HLA-DPA1, VCL, LDB3, PSEN2, FKTN, RBM20, MYH6, SCN5A |
| Dilated cardiomyopathy 1B | FKTN |
| Dilated cardiomyopathy 1H | AIFM1, TNF, TRPC5, SLC25A4, ADRB3 |
| Dimethylglycine dehydrogenase deficiency | DMGDH |
| Diminished ovarian reserve (DOR) | NGF, LHCGR, TP73, GDF9, IGF1, IGF1R, IGF2R, IGF2, CASP3, CASP8, FSHR, BDNF, ESR1, FSHB, FMR1, PTGS2, AMH |
| Disease-related dysmenorrhea | IL7R |
| Diseases of the tricarboxylic acid cycle | SDHA, OGDH, FH |
| Disordered steroidogenesis due to cytochrome P450 oxidoreductase | POR |
| Disorders of antidiuretic hormone | AVPR2 |
| Disorders of fatty-acid oxidation | SLC22A5 |
| Disorders of HCG production | CGB3 |
| Disorders of mitochondrial fatty-acid oxidation | ACADM, NADK2, HADH, ACAD9, CPT1A, HADHB, HADHA, ACADVL, CPT2, ACADS, SLC25A20 |
| Disorders of nucleotide excision repair | ERCC2, ERCC1, XPA, XPC, POLH, ERCC6, DDB2, ERCC8, ERCC5, ERCC4, DDB1, GTF2H5 |
| Disorders of sex development | CBX2 |
| Disorders of sex development (DSD) | POR |
| Disorders of sexual development (DSD) | NR5A1, FGFR2, KANK1, DMRT1, SRY, ZEB2, ADCY2, AMH, GLI2, GLI3 |
| Disorders of spermatogenesis | INHA, FST, INHBA, ACE, AMH, follistatin |
| Disorders of the endometrium | IL1B |
| Disseminated superficial actinic porokeratosis | SART3 |
| Disseminated superficial actinic porokeratosis (DSAP) (1) | SART3 |
| Distal arthrogryposis | FBN2, PIEZO2, MYBPC1, ECEL1, TNNI2, TPM2, MYH3, TNNT3, MYH8 |
| Distal arthrogryposis type 2B | TNNT3 |
| Distal arthrogryposis type 2B1 | MYH3 |
| Distal arthrogryposis type 7 | MYH8 |
| Distal hereditary motor neuropathies | BSCL2, DYNC1H1, HSPB1, TRPV4, FBXO38, REEP1, GARS1, ATP7A, HSPB8, HSPB3, SLC5A7, SIGMAR1, DNAJB2, PLEKHG5, IGHMBP2 |
| Distal myopathy | ANO5, TIA1, GNE, FLNC, TTN, CAV3, ADSS1, DYSF, LDB3 |
| Distal myopathy with anterior tibial onset | DYSF |
| Distal myopathy, Tateyama type | CAV3 |
| Distal renal tubular acidosis | ATP6V1B1, ATP6V0A4, SLC4A1 |
| Distal spinal muscular atrophy 1 | IGHMBP2 |
| Disturbed implantation and placentation | ITGAV |
| Donnai-Barrow syndrome | LRP2 |
| DOORS syndrome | TBC1D24 |
| Dopamine beta-hydroxylase deficiency | DBH |
| Dorfman-Chanarin syndrome | ABHD5 |
| Double-outlet right ventricle | GDF1 |
| Dowling-Degos disease | POFUT1 |
| Down syndrome | APOE, GATA1, GSTT1, GSTP1, GSTM1, TP53, SLC19A1, TNF, MTRR, CBS, MTR, MTHFD1, DYRK1A, RCAN1, PCNT, RELN, GART, HNMT, ACTR1A, FABP3, CTSS, ARPC4, GDI2, BRIP1, BNIP1, NAPB, SNAP25 |
| Downs syndrome | APOE |
| Doyne honeycomb retinal dystrophy | EFEMP1 |
| Dravet syndrome | SCN1A |
| Dry eye syndrome | ESR1, MUC1, ANXA1 |
| Duane retraction syndrome | CHN1, SALL4 |
| Duane-radial ray syndrome | SALL4 |
| Duchenne muscular dystrophy | DMD, DAG1, ITGA7 |
| Ductal carcinoma in situ | TIMP4, SOCS2, BNIP3, PTGES, STAT5A, SOCS1, TFF1, ANG, ANXA1, TYMP, ERBB3, AREG, CDKN1A, CCND1, KLK10, SOCS3, ST14, PTK2, TP53, HOXB13, NOTCH4, RELA |
| duodenal gastrinoma | MEN1 |
| Duodenal ulcer | NOS3, IL1RN, IL1B, TGFB1 |
| Dupuytren's disease | TGFBR3, TGFB1, TIMP2 |
| Dwarfism | COL1A1, GH1, VDR |
| Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia | DYM |
| Dysalbuminemic hyperthyroxinemia | ALB |
| Dyschromatosis symmetrica hereditaria | ADAR |
| Dyschromatosis universalis hereditaria | ABCB6, SASH1 |
| Dysembryoplastic neuroepithelial tumor | BRAF |
| Dysgammaglobulinemia | UNG |
| Dysgenetic gonads | AR |
| Dysgenetic testes | NR5A1 |
| dysgerminoma | ST14 |
| Dyskeratosis congenita | TERT, DKC1, PARN, NOP10, NHP2, TINF2, WRAP53, RTEL1, ACD, TERC |
| Dyskinesias | GSTP1, GPX1, SOD2 |
| Dyslexia | COMT, DNAAF4, AAVR, DCDC2, FOXP2, DRD4 |
| Dyslipidemia | APOE |
| Dyslipidemias | HNF1A, APOE, APOB, LMNA, LEP, GSTT1, GSTM1, LTF, PPARG, SERPINE1, ABCB1, ABCA1, TNF, AR, ACE, CAT |
| Dysmenorrhea | CYP1A1, GSTT1, GSTP1, GSTM1 |
| Dysmorphic sacrum | SRY |
| Dysostosis | EFNB1, DLL3 |
| Dyspepsia | IL1B, GSTT1, GSTP1, GSTM1, HTR2A |
| Dysperistalsis | OXTR |
| Dyspermia | GHRL, Ghrelin |
| Dysplasia | EDAR, EDA |
| Dysplasia of the fibrous sheath (DFS) | DNAH1 |
| Dysplastic nevus syndrome | CDKN2A |
| Dyspnea | F5 |
| Dyssegmental dysplasia | HSPG2 |
| Dysthymia | IL1RN, IL1B, IL1A |
| Dystonia | HLA-DQB1, HLA-DRB1, APOE, ACTB, TP53, BDNF, TOR1A, BCHE, TIMM8A, GCH1, SPR |
| Dystonia 12 | ATP1A3 |
| Dystrophinopathies | DMD |
| Dyszoospermia | DAZ4 |
| Early infantile epileptic encephalopathy | GABBR2, GNAO1, STXBP1, HNRNPU, GABRB1, ARV1, SYNJ1, FGF12, MDH2, SLC25A22, SLC1A2, CPLX1, ARHGEF9, ITPA, AP3B2, PIGP, AARS1, NTRK2, DENND5A, GABRB3, SCN1B, KCNQ2, GUF1, CACNA1A, EEF1A2, SCN2A, KCNB1, DOCK7, CDKL5, UBA5, ADAM22, KCNT2, ALG13, SZT2, GRIN2B, SPTAN1, CNPY3, YWHAG, NECAP1, SLC12A5, HCN1, KCNA2, ARX, GABRA1, SLC35A2, DNM1, SIK1, SLC13A5, CAD, GRIN2D, WWOX, TBC1D24, SCN8A, FRRS1L |
| Early infantile epileptic encephalopathy 1 | ARX |
| Early infantile epileptic encephalopathy 2 | CDKL5 |
| Early myoclonic encephalopathy | SLC25A22, SIK1 |
| Early onset periodontitis | HLA-DQB1, IL1RN, IL1B, IL1A |
| Early onset psoriasis | TNF |
| Early pregnancy loss | HLA-G |
| Early-onset myopathy, areflexia, respiratory distress, and dysphagia | MEGF10 |
| Early-onset vitamin B6-dependent epilepsy | PLPBP |
| EAST syndrome | KCNJ10 |
| Eating disorder | HDAC4 |
| Eating disorders | LEPR, LEP, GHRL, TAS2R38, IGF2, BDNF, COMT, OPRD1 |
| Ectodermal dysplasia | GJB6, NECTIN1, KRT17 |
| Ectodermal dysplasia associated immunodeficiency | NFKBIA, IKBKG |
| Ectodermal dysplasia, Clouston type | GJB6 |
| Ectodermal dysplasia, ectrodactyly, and macular dystrophy | CDH3 |
| Ectodermal dysplasia, hair-nail type | KREMEN1, KRT85, HOXC13, KRT74 |
| Ectodermal dysplasia-syndactyly syndrome | NECTIN4 |
| Ectopia lentis | FBN1 |
| Ectopic endometrial implants | LHCGR, CGA |
| Ectopic endometriosis | IL6, HLA-G, FAS, NOS2, BCL2, TIMP1, ELAVL1, MIF, MMP9, CXCL8, NFKB1, TNF |
| Ectopic pregnancy | VEGFA, CHKA, MUC5B, CGA, CGB3 |
| Ectopic tubal pregnancy | CTNNB1 |
| Eczema | IL4, IL18, TLR4, TLR2 |
| Effect on fertilization | TNF |
| Efficient spermatogenesis | ATP6V0A2 |
| Ehlers-Danlos syndrome | COL5A2, TNXB, COL5A1, LOX, ADAMTS2, COL3A1, COL1A2, SLC39A13 |
| Ehlers-Danlos syndrome arthrochalasia type | COL1A2 |
| Ehlers-Danlos syndrome cardiac valvular type | COL1A2 |
| Ehlers-Danlos syndrome dermatospraxis type | ADAMTS2 |
| Ehlers-Danlos syndrome kyphoscoliosis type | FKBP14 |
| Ehlers-Danlos syndrome musculocontractural type | DSE, CHST14 |
| Ehlers-Danlos syndrome myopathic type | COL12A1 |
| Ehlers-Danlos syndrome periodontal type | C1S, C1R |
| Ehlers-Danlos syndrome vascular type | COL3A1 |
| Ehlers-Danlos syndrome, spondylodysplastic type | B3GALT6, SLC39A13 |
| Eiken dysplasia | PTH1R |
| Ejaculatory dysfunction | PRLR, PRL |
| Elers-Danlose syndrome | GSTT1, GSTM1, COL1A1 |
| Ellis-van Creveld syndrome | EVC, EVC2, WDR35 |
| Embryo development | GHRL, PAPPA |
| Embryo development rate | PLCB1 |
| Embryo implantation | LIF, VEGFA, MUC1, PROK1, S100A11, IGF2, IGF1R, SERPINE1 |
| Embryo quality | BDNF, FBLN2, NCDN, USP24, GDF9, GRM6, INPP5A, JAG2, KCNQ1, MLLT6, MXRA7, SERPINF2, FBXL19, TNNI2, KIAA0319L, HIST1H4K, HIST1H4J, FGF18, SYT8, PSTPIP1, MTMR6, AHDC1 |
| Embryo selection | MTHFR, MTRR, MTR |
| Embryonic developmental competence | ESR2 |
| Embryonic lethality | TDRD6 |
| Emery-Dreifuss muscular dystrophy | LMNA, EMD, FHL1, SYNE2, SYNE1 |
| Emphysema | TGFB1, GSTT1, GSTP1, GSTM1, CYP1A1, TNF, HMOX1, ACE, MMP9 |
| Empty follicle syndrome | LHCGR |
| Encephalitis | APOE |
| Encephalocraniocutaneous lipomatosis | FGFR1 |
| Encephalomyelitis | HLA-DQB1, HLA-DRB1, HLA-DQA1, ABCB1 |
| Encephalopathy | GSTM1, GSTP1, GSTT1, CYP1A1, BSCL2, DNM1L, SERPINE1 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission | MFF |
| End stage renal failure | MBL2 |
| Endocrine-cerebro-osteodysplasia syndrome | CILK1 |
| Endodermal sinus tumor | WNT2B, SALL4 |
| Endogenous hypertriglyceridemia and familial hypercholesterolemia | APOE |
| Endometrial adenocarcinoma | PTGES, ANGPT1, ANGPT2, BET1L, TP53, EBAG9, CD55, FOXO3, TSG101, AXIN2, PIK3R1 |
| Endometrial cancer | KRAS, TP53, NOTCH4, JUP, HTRA2, FGF1, CDC25B, TFF1, BCL2L1, SMAD3, CD59, CHI3L1, HOXB13, BAG1, ANG, APC, BST2, SMAD2, TYMP, NOTCH1, TIMP4, FGF2, SOCS2, PIK3CD, PIK3R1, LTA, ADRB3, AKT2, MCPH1, PGM1, MRE11 |
| Endometrial carcinoma | TIMP4, HDAC3, MMP8, HRAS, NCOA1, PTK2, FGF7, TFF1, GRB2, NCOR2, TP53, SFN, AURKB, WNT3, SMAD4, ERAP1, WNT4, CDH13, BRAF, APC, PIK3R1 |
| Endometrial decidualization | FOXO1 |
| Endometrial differentiation | INHA |
| Endometrial function | INHA |
| Endometrial hyperplasia | NGAL, ESR1, CA9, PTK2, SKP2, JUP, TFF1, CDC25B, KRAS |
| Endometrial hypoplasia | SERPINE1 |
| Endometrial polyp | IL1A, IFNG, LHB, VEGFA, NR5A1, CYP19A1, MMP2, NFKB1, PTGS2 |
| Endometrial receptivity | VEGFA, LIF, LEP, MUC1, PAEP, S100A11, ITGA4, AR, PLA2G2A |
| Endometriosis | HLA-DPB1, HLA-DQB1, MMP9, MMP2, IL1RN, HLA-DQA1, FGFR2, ESR1, LHB, LIF, GNRH1, CYP17A1, CYP1A1, AHR, APEX1, ERCC2, GDF15, HLA-A, CYP1B1, AGTR1, TNF, PARK7, INHA, ICAM1, HLA-B, COMT, IL6, NAT2, HLA-DR, NGAL, NGF, APOE, INSR, INHBA, IL1B, IL1A, IL10, IGFBP3, IFNG, ANXA5, LTF, HLA-Cw7, TGFB1, NODAL, PRM1, FKBP4, FN1, FASLG, LHCGR, FOXO1, FLT3, FLT1, FSHR, FPR1, FSHB, FOXP3, FAS, CX3CL1, FGF2, KRT1, SDHA, KIT, AURKA, TNFR, CXCL8, VEGFA, IL2, IL23A, MIF, CA125, LAMA1, LEP, C3, SOX2, SOD1, SCF, GPX1, VIM, CD56, IL4, ITGAV, PGR, CD29, DPP6, NR5A1, HGF, PAEP, GJA1, GSTM1, gp130, GSH, GSTT1, GSK3B, PLAU, GPER1, LGALS1, JUN, IL18, Hsp60, HSD17B3, GATA6, HABP1, CFL1, GSTP1, MMP7, S100A12, H2AX, MTOR, AKT1, IL22RA1, MIR99B, MIR142, MIR34C, MLH1, MSH2, AMY2A, PLAUR, GC, AHRR, GHRL, GDF9, IGF1, MUC5B, CYP11A1, CYP2B6, ACTB, ATP5A1, SMAD2, SIRT1, HDAC1, CD147, MAPK1, ENO1, KDR, MIR21, EZH2, HIST3H3, Src, PRL, AVP, CRP, BMPR1B, SAA1, PAPPA, CCNB1, DNMT1, DNMT3A, PAFAH1B2, CD79A, ITGA4, MIR122, MIR145, CTSD, MIR141, ANXA2, MI |
| Endometriosis-associated infertility | IL6, IL-6R |
| Endometriosis-associated infertility | IL6, NOS2, IL1B, VEGFA, LEP, COL4A3, MIF, CYP17A1, C3, CYP19A1, DNMT3L, ICAM1, TYK2, IL1R2, IL6R, MTHFR, COMT, VDR, TNF, IL2, ESR1, IL23A, SERPINE1, INHA, TLR4, TLR2, CXCL8, PEMT |
| Endometriosis-related dysmenorrhea | FGFR1 |
| Endometriotic lesions | CDH1, CD44 |
| Endometritis | BCL2 |
| Endothelial dysfunction | ACE, NOS3 |
| Enhanced fertility | LEP |
| Enhanced S-cone syndrome | NR2E3 |
| Enlarged parietal foramina/cranium bifidum | ALX4, MSX2 |
| Enolase deficiency | ENO1 |
| Enterocolitis | CXCL8 |
| Enterokinase deficiency | TMPRSS15 |
| Enuresis | NOS3 |
| Eosinophil peroxidase deficiency | EPX |
| Eosinophilia | IL10, IL5 |
| Eosinophilia-Myalgia Syndrome | HLA-DQA1, HLA-DRB1 |
| Eosinophilic esophagitis | TSLP, CCL26 |
| Eosinophilic granulomatosis with polyangiitis | HLA-DRB1 |
| Epidermal Necrolysis | HLA-DQB1, HLA-DRB1, HLA-C, HLA-B, HLA-A |
| Epidermodysplasia verruciformis | TMC6, TMC8 |
| Epidermolysis bullosa | ITGA6, LAMC2, ITGB4, LAMB3, LAMA3, COL17A1 |
| Epidermolysis bullosa dystrophica | COL7A1 |
| Epidermolysis bullosa simplex | EXPH5, KLHL24, DSP, KRT14 |
| Epidermolysis bullosa, dysprophica | COL7A1 |
| Epidermolysis bullosa, hemidesmosomal | PLEC |
| Epidermolytic hyperkeratosis | KRT1, KRT10 |
| Epidermolytic palmoplantar keratoderma | KRT1, KRT9 |
| Epididymal dysfunction | AR |
| Epididymis dysplasia and impaired sperm fertilization | SLC26A3 |
| Epididymitis | TUBA1A |
| Epigenetic regulation during spermatogenesis | JMJD1C |
| Epilepsy | MMP9, HLA-DRB1, APOE, IL1A, HLA-B, F5, IL1RN, IL1B, VAMP2, C3, KCNJ6, GABBR2, GSTT1, GSTM1, CYP1A2, ACP1, CLCN2, BDNF, MTHFR, ABCB1, AR, STXBP1, STX1A, CYP1A1, BRD2, TLR4, NR1I2, MTRR, MTR, CYP2B6, BCHE, ATP1A3 |
| episodic ataxia | CACNB4 |
| Episodic ataxia type 2 | CACNA1A |
| Episodic ataxias | SLC1A3, CACNA1A, CACNB4, KCNA1 |
| Epispadias with the urethral meatus close to the penopubic junction | SRY |
| Epithelial basement membrane corneal dystrophy | TGFBI |
| Epithelial hypotrophy and obstructive azoospermia | AR |
| Epithelial ovarian cancer | GADD45G, CHEK1 |
| Epstein syndrome | MYH9 |
| Erdheim-Chester disease | KRAS, BRAF, MAP2K2, MAP2K1 |
| Erectile dysfunction | APOB, FSHR, PGR, GH1, CRP, MTHFR, HFE, AR, NOS3, ACE, GH, CAV1 |
| Erythema | HLA-DRB1, IL6, IL1A, IL10, IL1RN, NOS2, IL1B, NOS3, GSTT1, GSTM1, C3, CCR5, VDR, TNF, ICAM1, CCL5 |
| Erythema multiforme | CD40 |
| Erythrocyte lactate transporter defect | SLC16A1 |
| Erythrocytosis | HIF1A |
| Erythrokeratodermia variabilis | KRT83, TRPM4, GJB4, GJB3 |
| Erythrokeratodermia variabilis et progressiva | GJA1 |
| Erythropoietic porphyria | FECH, UROD, UROS |
| erythropoietic protoporphyria | FECH |
| Esophageal achalasia | NOS2 |
| Esophageal adenocarcinoma | CHEK1, FGFRL1, TGFA, PRKCA, RAD51, POU1F1 |
| Esophageal atresia | GSTT1, GSTP1, GSTM1, EFTUD2 |
| Esophageal cancer | CCND1, APC, TP53, FGF2, LZTS1 |
| esophagus adenocarcinoma | BECN1, CTSB, CDC5L, FOXP1 |
| Esophagus squamous cell carcinoma | BMP6, EHMT1, TAP1, KDM4C, KAT2B, CBX8, WRAP53, PSMB9, KDM5B, EHMT2, BST2, TAP2, HOXB7, AZIN1, KMT2C, MBD4, KMT2D, WWOX, FANCA, TP53, CDKN2B, DCC |
| Essential for maintanence of male infertility | ESR1 |
| Essential for mouse spermatogenesis | CIB1, Eif2s3y |
| Essential for mouse spermatogenesis and oogenesis | RANBP9 |
| Essential for sperm formation | Zfy2 |
| Essential for sperm function | CYP17A1 |
| Essential for spermatogenesis | NR2C2, Zfy2, CDK16, HSPBP1, TEX14, ADAD1, CUL4A, PPP1CC2, BAG2 |
| Essential for spermatogenesis and fertility | TEX14 |
| Essential for spermatogenesis to proceed to the round spermatid stage | EIF2S3Y |
| Essential for spermatogonial survival and spermatogenesis | TSC22D3 |
| Essential for testis development | ADGRG1 |
| Essential for the onset of key events in the differentiation and maturation of mammalian sperm and whose absence severely compromises their ability to fertilize ova | TMF1 |
| Essential function in spermatid morphogenesis | ADAD1 |
| Essential hypertension | RARRES2, ATP5PF, AGTR1, NPR2, RNLS, SLC12A3, ATP2A2, GRK4 |
| Essential regulator for sperm maturation | DDX25 |
| Essential role in tissue reorganization during early testis development | Cst9 |
| Essential thrombocythemia | CD36, VCAM1, MPL, THPO, CALR, JAK2 |
| Essential thrombocytosis | JAK2, MPL, CALR |
| Essential tremor | FUS, TENM4 |
| Estrogen resistance syndrome | ESR1 |
| Estrogen-receptor positive breast cancer | CARM1, CYB5R3 |
| Ethmoid sinusitis | CCL7 |
| Ethylmalonic encephalopathy | ETHE1 |
| Euspermia | CALM1 |
| Ewing sarcoma | FEV, ETV1, ERG, ETV4, FLI1, EWSR1 |
| Exanthem | CCR6, CCL20 |
| Excessive secretion of growth hormone | AIP, GPR101 |
| Exfoliation syndrome | MTHFR, APOE, GSTT1, GSTM1, GSTP1, ACE, MTRR, MTR, CBS, MTHFD1, MMP9, MMP2, TNF, TGFB1, CLU, ELN, EDN1 |
| Exhibit round spermatids in infertile men | PRM1 |
| Exstrophic perineal tissue identified as a rectal duplication | SRY |
| External gential endometriosis | IL6, TGFB1, IL1B, IL2, VEGFA |
| Extrahepatic cholestasis | NR1H4 |
| Extrapelvic endometriosis | VEGFA, PTGS2 |
| Extraskeletal myxoid chondrosarcoma | NR4A3 |
| Extrauterine pregnancy | CGA |
| Exudative vitreoretinopathy | FZD4 |
| Eye disease | TNF, TLR3, COL2A1, F2 |
| Eye diseases | HLA-DRB1, HLA-DQB1, CYP1A1, HLA-C, HLA-B, HLA-A, TNF, FAS, GSTM3, GSTT1, GSTP1, GSTM1, VEGFA, CCL5, WT1, SULT1A1 |
| Eyelid disease | FOXC2 |
| Fabry disease | IL6, IL1A, IL10, VDR, TNF, IL1B, CRP, NOS3, GLA, AGT |
| Facilitates homeostasis and differentiation during mammalian spermatogenesis | PRC2 |
| Facioscapulohumeral muscular dystrophy | FRG1, SMCHD1, SLC25A4 |
| Factor V deficiency | F5, TFPI, LMAN1 |
| Factor VII deficiency | F7 |
| factor VIII deficiency | CFP, C5, CFB, TFPI, F2, F8, FCGR2A |
| Factor XII deficiency | F12 |
| Factor XIII deficiency | LMAN1 |
| Failure in chromosomal synapsis, blockades in meiotic recombination, and increased apoptosis | MORC2B |
| Failure in chromosomal synapsis, blockades in meiotic recombination, and increased apoptosis | MORC2B |
| Fallopian tube cancer | TP53 |
| Fam hyperbetalipoproteinaemia | APOE |
| Familial adenomatous polyposis | ACE, PLA2G2A, MUTYH, APC, IHH |
| Familial adult myoclonic epilepsy | RAPGEF2, CNTN2, SAMD12, TNRC6A, ADRA2B |
| Familial advanced sleep phase syndrome | PER3, CSNK1D, PER2 |
| Familial age-related macular degeneration | APOE |
| Familial amyloidosis | APOA1, LYZ, FGA |
| Familial amyotrophic lateral sclerosis | SOD1 |
| Familial and sporadic frontotemporal dementia | APOE |
| Familial articular chondrocalcinosis | ANKH |
| Familial benign chronic pemphigus | ATP2C1 |
| Familial central hypogonadism | PROP1 |
| Familial chilblain lupus | TREX1 |
| Familial cirrhosis | KRT18, KRT8 |
| Familial cold autoinflammatory syndrome | NLRP3, NLRP12, PLCG2 |
| Familial combined hyperlipidaemia | APOA1 |
| Familial combined hyperlipidemia | APOE, USF1, THBD, ALPL, LIPC, HNF4A, APOC3, ADD1 |
| Familial combined hyperlipoproteinemia | APOA1 |
| Familial cylindromatosis | CYLD |
| Familial defective apolipoprotein B | APOB |
| Familial delayed puberty | IGSF1 |
| Familial dementia | ITM2B |
| Familial digital arthropathy-brachydactyly | TRPV4 |
| Familial dysautonomia | ELP1 |
| Familial dysbetalipoproteinemia | APOE |
| Familial dyskinesia with facial myokymia | ADCY5 |
| Familial early onset psoriasis | IL10 |
| Familial encephalopathy with neuroserpin inclusion bodies | SERPINI1 |
| Familial epilepsy temporal lobe | LGI1, CPA6, GAL, RELN |
| Familial episodic pain syndrome | SCN11A, TRPA1, SCN10A |
| familial erythrocytosis | EPOR |
| Familial erythrocytosis 8 | BPGM |
| Familial expansile osteolysis | TNFRSF11A |
| Familial exudative vitreoretinopathy | NDP, FZD4, TSPAN12, LRP5 |
| Familial flecked retina syndrome | CFH, RDH5, RLBP1, RHO, EFEMP1 |
| Familial focal epilepsy with variable foci | NPRL2, DEPDC5, NPRL3 |
| Familial glucocorticoid deficiency | MC2R, NNT, TXNRD2 |
| Familial hemophagocytic lymphohistiocytosis | PRF1, UNC13D, STX11 |
| Familial hemophagocytic lymphohistiocytosis 3 | UNC13D |
| Familial hyperbetalipoproteinaemia | APOB |
| Familial hypercholanemia | TJP2, BAAT, EPHX1 |
| Familial hypercholesterolaemia | APOB |
| Familial hypercholesterolemia | NOS3, LDLR, PCSK9 |
| Familial hyperinsulinemic hypoglycemia | INSR, HADH, SLC16A1, GCK, ABCC8, GLUD1 |
| Familial hyperlipidemia | TFPI, BCHE, CCL2, LPL, GNB3 |
| Familial hypertrophic cardiomyopathy | MYL2, MYBPC3, CALM3 |
| Familial hypobetalipoproteinemia | APOB, ANGPTL3 |
| Familial hypocalciuric hypercalcemia | AP2S1, GNA11 |
| Familial idiopathic basal ganglia calcification | PDGFB, PDGFRB, XPR1, SLC20A2 |
| Familial idiopathic ventricular fibrillation | DPP6, SCN5A |
| Familial infantile myoclonic epilepsy | TBC1D24 |
| Familial juvenile hyperuricemic nephropathy | UMOD, SEC61A1 |
| familial lipoprotein lipase deficiency | LPL |
| Familial liver adenomatosis | HNF1A |
| Familial male pseudohermaphroditism | SRD5A1, AR |
| Familial male-limited precocious puberty | LHCGR |
| Familial melanoma | CDKN2A |
| Familial osteochondritis dissecans | ACAN |
| Familial partial lipodystrophy | PLIN1, PPARG, LMNA, LMNB2, AKT2 |
| Familial pseudohyperkalemia | ABCB6, PIEZO1 |
| Familial renal glucosuria | SLC5A2 |
| Familial skewed X-chromosome inactivation | XIST |
| Familial thoracic aortic aneurysm and dissection | MFAP5, MYH11, LOX, PRKG1, TGFBR1, TGFBR2, MYLK, FOXE3, ACTA2 |
| Familial tumoral calcinosis | GALNT3, FGF23, KL, SAMD9 |
| Familial ventricular tachycardia | GNAI2 |
| Fanconi anemia | GSTT1, GSTP1, GSTM1, FANCM, RAD51, BRCA2, FANCA, XRCC2, RAD51C, FANCD2, FANCF, SLX4, FANCL, RFWD3, FANCG, UBE2T, MAD2L2, PALB2, ERCC4, FANCC, BRIP1, FANCE, TNF, FLT3LG |
| Fanconi anemia complementation group J | BRIP1 |
| Fanconi renotubular syndrome | SLC34A1 |
| Fanconi syndrome | SLC34A1 |
| Farber lipogranulomatosis | ASAH1 |
| Farmer's lung | TNF |
| Fatal infantile cardioencephalomyopathy | COA5, SCO2 |
| Fatigue Syndrome | HLA-DRB1 |
| Fatty liver | CPN1, HNF1A, CACNA2D1, AGTR1, SPINK1, PPARG, MTHFR, LEPR, APOE, IL6, IL10, HFE, CLOCK, TNF, TGFB1, IL1B, LEP, GSTT1, GSTP1, GSTM1, TCF7L2, STAT3 |
| Fatty liver disease | GPT, INS, MIR224, PPARA, SHC1, MTTP, ADIPOQ, GGT1, ALPL, PRKCD, CYP2E1, PNPLA3, ADRB2, HADHA |
| FDLAB syndrome | ASPH |
| Febrile seizures | IL1B, GJA1, IL1RN, GABRG2, SCN1B, STX1B, ADGRV1, SCN1A, GABRD, CPA6 |
| Fechtner syndrome | MYH9 |
| Feingold syndrome 1 | MYCN |
| Female external genitalia | LHR |
| Female fertility | FSHR |
| Female infertility | SERPINE1, ALOX15, TP53, FOXP3, EGF, CYP19A1, CYP17A1, CRP, AR, INHA, IL10, HLA-DRB1, HLA-DQB1, BDNF, NFKB1, MTHFR, HSD17B3, LIF, LEPR, NGAL, NGF, APOE, INSR, IL6, APOA1, IL1B, IL1A, IFNG, ANXA5, HLA-G, HLA-DRA, HLA-C, HLA-B, HLA-ABC, FSHR, CCR5, FMR1, TNF, PON1, FKBP4, FLT3, LMNA, FN1, LHCGR, IL7R, FGFR2, FOXO1A, F5, FSHB, FASLG, APOB, LHB, NOS2, TGFB1, IL23A, IL2, NOS3, LEP, GDF9, LPO, SOD1, ICAM1, HSF1, CD9, CD56, CD16, CXCL10, CCL11, IL11, IL4, ITGAV, ITGA4, IL17A, PGR, IGFBP3, MMP2, CDH1, KITLG, PAPPA, HBEGF, EGFR, CA125, RANk-L, prostate-specific antigen, IL18, AMHR2, INHBA, GPER1, GSTP1, ACP3, AKT1, LAMB1, AHRR, GHRL, DLK1, HSPB1, ACTB, HDAC1, ARG2, ENO1, CD8A, CGA, SPACA3, CD147, PRL, CCNB1, CD79A, CTSD, VEGFA, IL33, DROSHA, KDR, PAEP, CFL1, FLT1, CFTR, ERBB2, HSD17B5, IL1R2, IL1R1, HGF, DDX4, AFM, AQP8, IGF1, ADM, CD52, CD44, MIF, GNRH1, A2M, Hsp60, BAX, FST, GC, EDNRA, ATM, IL5, ACP1, CYP2B6, CYP11A1, AQP5, NR5A1, ITGB1, BMP4, IL6R, IGF2, HSD3B1, HSD17B2, HSD17B1, ATP6, DICER1, CTNNB1, APEX1, CD69, L |
| Female pseudohermaphroditism | CYP19A1, CYP21A2, NR3C1 |
| Female subfertility | FSHR, VEGFA |
| Femur head necrosis | ANXA6, APOA1, TNF, ANXA5, ABCB1, APOB |
| Fertile eunuch syndrome | LHB |
| Fertile eunuch syndrome | LHB |
| Fertility | APOE, PPARG |
| Fertility defects | ESR1, ADAM7 , POU5F2, HMGB2, ESR2, PRKAR1A, TSPY1 |
| Fertility disorders | MIF |
| Fertilization | GDF9 |
| Fertilization capacity | GAA |
| Fertilization defects | SPAM1, ZNF230 |
| Fertilization failure | WBP2NL, IZUMO1, PLCG1 |
| Fertilization rate | PLCB1 |
| Fertilization rates | ACR |
| Fertilizing ability | ITGA6, ITGA4, ITGA5, ITGB1 |
| Fertilizing defects | FTO, TNF, AHSG, AMH, ITGA4, ITGA5, ITGA6, AQP7, INHA, CD9, ACR, MIF, INHBA, LTF, PPARG, NBN, ADAMTS1, IZUMO1, AMY2A, PRKAR1A, ITGB1, PLCG1, WBP2NL, GAA, ZP3, Relaxin, SERPINE1, LHB, TP53, CXCL8, CRISP2 |
| Fetal akinesia deformation sequence | RAPSN, DOK7 |
| Fetal dysgenesis | ESR1 |
| Fetal Growth Retardation | IGFBP3, GSTT1, GSTM1, IGF1 |
| Fetal loss | NAT2, NOS3, HLA-C, CYP1A2 |
| Fetal loss thrombophilia | SERPINE1, MTHFR, F5 |
| Fetal Membrane Rupture | MMP9 |
| FG syndrome | MED12, CASK |
| FGFR3-related short limb skeletal dysplasias | FGFR3 |
| fibrillary astrocytoma | KRAS |
| Fibrocalculous pancreatic diabetes | SPINK1 |
| Fibrochondrogenesis | COL11A1, COL11A2 |
| Fibrodysplasia ossificans progressiva | ACVR1 |
| fibroma | ANTXR2 |
| Fibromatosis | CTNNB1, SOS1 |
| Fibromuscular dysplasia | SERPINA1 |
| Fibromyalgia | NOS3, IL4, CNBP, CCL2 |
| Fibromyalgia hyperalgesia | COMT |
| Fibrosing alveolitis | TNF |
| Fibrotic lung disease | TGFB1 |
| Fibrous histiocytoma | MFHAS1 |
| Fibular hypoplasia and complex brachydactyly | GDF5 |
| Filippi syndrome | CKAP2L |
| FILS syndrome | POLE |
| Fimbriae tubes with adhesions and atresias | TGFB1 |
| Flagella destabilization and asthenozoospermia | DNAH17 |
| Flagellar abnormalities | SPAG2 |
| Flagellar anomalies | NME8 |
| Flagellar anomalies, Male infertility | Sptrx-2 |
| Fleck corneal dystrophy | PIKFYVE |
| Floating-Harbor syndrome | SRCAP |
| Focal cortical dysplasia | MTOR |
| Focal cortical dysplasia of Taylor | TSC1 |
| Focal facial dermal dysplasia | CYP26C1 |
| Focal nonepidermolytic palmoplantar keratoderma | TRPV3 |
| Focal segmental glomerulosclerosis | WT1, ANLN, INF2, CD2AP, CRB2, ACTN4, APOL1, PPP3CA, PPP3CB, RAP1GAP, HSPB1, CCL3 |
| Folic acid deficiency | MTHFR, MTHFD1, MTRR, MTR |
| Follicle development | AMH, CSF1 |
| Follicle size | SHBG |
| Follicular aging process | AMH |
| Follicular arrest | AMH |
| Follicular development | PAPPA, INHBA, AAT, C3, TF, AZGP1 |
| Follicular estradiol synthesis | MTHFR |
| Follicular growth and development | AMH, INHBB, VEGFA |
| Follicular lymphoma | EZH2, BCL2, CREBBP, KMT2B, KMT2D, EP300, BORCS8-MEF2B, CD40 |
| Follicular size | CXCL8 |
| Folliculogenesis | AMH |
| Formation of sperm acrosome | SPINK2 |
| Formiminotransferase deficiency | FTCD |
| Foveal hypoplasia | SLC38A8 |
| FRA12A mental retardation | DIP2B |
| Fragile X syndrome | FMR1 |
| Fragile X Tremor/Ataxia Syndromeá(FXTAS) | FMR1 |
| Fragile X Tremor/Ataxia Syndrome (FXTAS) | FMR1 |
| Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) | FMR1 |
| Frank-ter Haar syndrome | SH3PXD2B |
| Fraser syndrome | FREM2, GRIP1, FRAS1 |
| Frasier syndrome | WT1 |
| Fredrickson hyperlipoproteinemia | APOE, APOB |
| Friedreich ataxia | FXN, MT-ND1 |
| Frontometaphyseal dysplasia | MAP3K7 |
| Frontonasal dysplasia | ALX4, ALX3, ALX1 |
| Frontorhiny | ALX3 |
| Frontotemporal dementia | APOE, BACE2, LRRK2, GRN, CHMP2B |
| Frontotemporal dementia and amyotrophic lateral sclerosis | TBK1, C9orf72, SQSTM1, CHCHD10 |
| Frontotemporal lobar degeneration | APOE, CST3, TARDBP, MAPT, VCP, CHMP2B, PSEN1, GRN |
| Fructose-1,6-bisphosphatase deficiency | FBP1 |
| Fuchs corneal dystrophy | ZEB1, TCF4, SLC4A11, COL8A2, AGBL1 |
| Fuchs' endothelial dystrophy | CDKN1A, LOXHD1 |
| Fucosidosis | FUCA1 |
| Fuhrmann syndrome | WNT7A |
| Fukuyama congenital muscular dystrophy | FKTN, DAG1 |
| Fumarase deficiency | FH |
| Functional androgenization (FA) | AMH |
| Functional hypothalamic amenorrhea | AMH |
| Functional hypothalamic amenorrhea (FHA) | BDNF |
| Functional ovarian cysts | LHCGR |
| Functional state of the seminiferous epithelium in patients with azoospermia | INHBA |
| Functional state of the seminiferous epithelium in patients with azoospermia | INHB |
| Functional ovarian hyperandrogenism | PPARG, INSL3 |
| Functional ovarian reserve (FOR) | FSHB, FMR1, AMH |
| Functions as a transcriptional regulator in testicular somatic cells and is essential for male germ cell differentiation and survival | AFF4 |
| Functions as decapacitation factor for mouse sperm | Svs2 |
| Fundus albipunctatus | PRPH2 |
| Fundus dystrophy | ABCA4 |
| Fusion of the labioscrotal folds, a single perineal opening representing a urogenital sinus, and palpable inguinal gonads | NR5A1 |
| GABA-transaminase deficiency | ABAT |
| Galactokinase deficiency | GALK1 |
| Galactose epimerase deficiency | GALE |
| Galactose-1P uridylyltransferase deficiency | GALT |
| Galactosemia | GALT, GALE, GALK1 |
| Galactosialidosis | GLB1, CTSA |
| Gallbladder cancer | KRAS, APC, TP53, BUB1B, DPYD, KEAP1 |
| gallbladder carcinoma | TYMP, ACTR3, ANTXR1, TJP1, TGFA, ABO |
| Gallbladder disease | ABCB4 |
| Gallbladder diseases | APOE, IL10, APOB |
| Galloway-Mowat syndrome | NUP107, WDR73, TPRKB, WDR4, LAGE3, NUP133, OSGEP, TP53RK |
| Gamete quality | FAS, FASLG |
| Gangliosidosis | GM2A |
| Gastric adenocarcinoma | PMEPA1, HNRNPA0, AMIGO2, IRF1, TP53 |
| Gastric atrophy | PTPN11, IL4, CAT, IL2 |
| Gastric cancer | RARB, KRAS, CCNE1, APC, CDKN1B, TGFBR1, CDX2, TP53 |
| Gastric disease | TNF, IL10, IL1RN, IL1B, GSTT1, GSTM1, TLR4 |
| Gastric mucosa | IL17A, MIF |
| Gastric ulcer | PLAT, SERPINE1 |
| Gastrinoma | MEN1 |
| Gastrointestinal carcinoma | NOD2 |
| Gastrointestinal defects and immunodeficiency syndrome | TTC7A |
| Gastrointestinal Diseases | MT-CO1 |
| Gastrointestinal hemorrhage | HFE |
| Gastrointestinal nerve sheath tumors | NF2 |
| Gastrointestinal stromal tumor | ABCB1, KIT, SDHB |
| gastrointestinal system cancer | SMAD4 |
| Gastroschisis | F5, NOS3, ICAM1, ADD1 |
| Gastrotintestinal stromal tumor | PDGFRA |
| Gaucher disease | MTHFR, HFE, VDR, IL6, NTRK3, GBA, F5, ACE, PSAP |
| Gaucher's disease | PKLR, TNF |
| Gelatinous drop-like corneal dystrophy | TACSTD2 |
| Geleophysic dysplasia | FBN1, ADAMTSL2 |
| General cognitive ability | APOE |
| Generalized arterial calcification of infancy | ENPP1, ABCC6 |
| Generalized epilepsy and paroxysmal dyskinesia | KCNMA1 |
| Generalized epilepsy with febrile seizures plus 2 | SCN1A |
| Genetic obesity | UCP3, MRAP2, ADRB2, ADRB3, SIM1, ENPP1, UCP1, UCP2, CARTPT, PCSK1, PPARGC1B, POMC, SDC3, MC3R |
| Genital abnormalities | AR |
| Genital development | PAX2 |
| Genital diseases | MTHFR, HFE, COMT, GSTT1, GSTP1, GSTM1, CYP1A1, TP53 |
| Genital endometriosis | IL6, IL1B, IGF1 |
| Genital endometriosis, Female infertility, Endometriosis | MMP7, MMP9 |
| Genital malformation, vaginal aplasia, rudimentary uterus , mullerian aplasia | HNF1B |
| Genital tract infections | IL18 |
| Genitopatellar syndrome | KAT6B |
| Genitourinary defects | OTX1 |
| Genomic Instability DNA repair | XRCC1 |
| Germ Cell and Embryonal Neoplasms | DND1 |
| Germ cell aplasia | MCL1 |
| Germ cell arrest | IL1B, PTGS2 |
| Germ cell development | A2M, TSPO, IGF1, PROK1, PTGS2 |
| Germ cell development arrest, azoospermia | CSNK2B |
| Germ cell maturation arrest | PIWIL4 |
| Germ cell tumors | KIT |
| Germinal arrest | PCNA |
| Germinoma | PDPN, MGP, BRAF |
| Geroderma osteodysplasticum | GORAB, PYCR1 |
| Gestational diabetes | INS, SRRM1, CCL2, ADIPOQ, AHSG, APOD, GGT1, GAD2, CDKAL1, GCK, UTS2 |
| Gestational diabetes mellitus | MED1 |
| Giant axonal neuropathy | DCAF8, GAN |
| Giant cell arteritis | HLA-B, TNF, IL10, IFNG, STAT4, IL1A, NOS2, IL6, FCGR3A, IL4, NOS3, VEGFA, CRP, IL18, MMP9, IL2RA, HIF1A, CCL5, HLA-DRB1, ICAM1, TLR4, MIF, PTPN22 |
| Giant cell tumor of bone | TP53, H3-3A, HRAS |
| Gilles de la Tourette syndrome | HCN4, DRD4, BAIAP2 |
| Gingival fibromatosis with hypertrichosis | ABCA5 |
| Gingival hemorrhage | IFNG, IL12A |
| Gingival overgrowth | SPARC, TGFB1, ABCB1 |
| Gingivitis | MMP9, IL10, IL1RN, IL1B, IL1A, IL18 |
| Gitelman syndrome | SLC12A3, CLCNKB |
| Glanzmann thrombasthenia | ITGA2B, ITGB3 |
| Glanzmann's thrombasthenia | ITGB3, ITGA2, ITGA2B |
| Glass syndrome | SATB2 |
| Glaucoma | AGTR1, MMP9, SERPINE1, MTHFR, APOE, TNF, CYP1B1, PON1, TGFB1, NOS3, CYP11B2, PAFAH1B1, GSTT1, GSTP1, GSTM1, GSTM3, EDNRA, IGF2, PON2, TP53, XRCC1, CFH, APOA4, SNCG, EPO, CNTF, EEF2, LINGO1, FOXC1, WDR36, OPTN |
| Glioblastoma multiforme | MIR518B, HRAS, ADGRB1, FABP7, CBX6, TNC, KRAS, ASPM, CTSB, ENPP1, NDRG4, RPL35A, CBX7, CDK6, PIK3CD, L1CAM, HEATR1, BECN1, PDPN, ADGRL4, CBX8, ATRX, KCNC2, ACTR3, CHI3L1, MAP2K2, MAP2K3, CTSH, MAP1LC3A, AKT3, FLT3LG, PDGFB, PDGFRB, RPL5, DMBT1 |
| Glioma | GSTM3, MDM2, CDKN2A, EGFR, IDH1, TP53, PDGFB, PDGFA, PDGFRB, PDGFRA |
| Global cerebral hypomyelination | SLC25A12 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ZNF148 |
| Globozoospermia | RB1, ZDBF2, AURKC, LIN28B, VPS54, ICA1L, SUN4 , GOPC, SLC9A8, HSD11B1, PICK1, KCNK9, PLCZ1, DPY19L2, GDAP1L1, RTL1, SLC22A18, SPATA16, MGMT, GNAS, CSNK2A2, ZPBP, TM4SF19, Csnk2b, C2CD6, GGN, C7orf61, MAGEA3, 5hmC, CCDC73, ATP8A2, NRIP3, SPACA1, CCDC62, DNAH17, CCIN, PLC?, PRM2 |
| Globozoospermia, male infertility | Csnk2a2, Hrb |
| Glomerulopathy with fibronectin deposits | FN1 |
| Glomerulosclerosis | PON1, PAX2, ACE, PLA2G7 |
| glottis squamous cell carcinoma | WRAP53 |
| Glucocorticoid resistance | NR3C1 |
| Glucocorticoid-induced osteonecrosis | SERPINE1, VEGFA, ABCB1, NR3C1, COL2A1, HSD11B2 |
| Glucocorticoid-remediable aldosteronism | CYP11B2 |
| Glucose intolerance | NEUROD1, APOC3 |
| Glucosephosphate dehydrogenase deficiency | MTHFR, G6PD, F5, SLC4A1 |
| GLUT1 deficiency syndrome | SLC2A1 |
| Glutaric acidemia | ETFDH, SUGCT, GCDH, ETFB, ETFA |
| Glutathione synthetase deficiency | GSS |
| Glycerol kinase deficiency | NR0B1, GK |
| Glycerol quantitative trait locus | AQP7 |
| Glycine encephalopathy | AMT, GLDC |
| Glycine encephalopathy with normal serum glycine | SLC6A9 |
| Glycogen storage disease | GAA, G6PD, LDHA, ACE, PFKM, GYG1, PHKB, GYS2, PRKAG2, GBE1, PGM1, AGL, ALDOA, PHKG2, PGAM2, SLC37A4, PHKA2, ENO3, PYGL, GYS1, PYGM |
| Glycogen storage disease of heart | PRKAG2 |
| Glycogen storage disease type 0a | GYS2 |
| Glycogen storage disease type 0b | GYS1 |
| Glycogen storage disease type I | SLC37A4 |
| Glycogen storage disease type III | AGL |
| Glycogen storage disease type IV | GBE1 |
| Glycogen storage disease type IX | PHKB, PHKG2, PHKA2 |
| Glycogen storage disease type V | PYGM |
| Glycogen storage disease type VI | PYGL |
| Glycogen storage disease type VII | PFKM |
| Glycogen storage disease type X | PGAM2 |
| Glycogen storage disease type XII | ALDOA |
| Glycogen storage disease type XIII | ENO3 |
| Glycogen storage disease type XIV | PGM1 |
| Glycogen storage disease type XV | GYG1 |
| Glycogen storage disease VII | PFKM |
| Glycoproteinoses | MAN2B1, GLB1, FUCA1, MANBA, CTSA, NAGA, NEU1, AGA |
| Glycoproteinosis | GNPTG, MCOLN1 |
| GM1 gangliosidosis | GLB1 |
| GM2 gangliosidoses | HEXA, GM2A |
| GM2 gangliosidosis | GM2A |
| Gnathodiaphyseal dysplasia | ANO5 |
| Goldberg-Shprintzen megacolon syndrome | KIFBP |
| Goldmann-Favre syndrome | NR2E3 |
| Gonad development | SOX9, SPINK2, DLK1, HSPB1, TXN, DNM2, GPX1 |
| Gonadal dysfunction | INHBA, INHB |
| Gonadal dysgenesis | IGF1, NR5A1, HLA-DR, HLA-B, HLA-A, AMH, AR, HLA, HLA-DRB1 |
| Gonadal sexual differentiation | DGCR8, DROSHA |
| Gonadal sexual differentiation, Male infertility | XPO5 |
| Good quality MII oocytes | PGR, FSHR |
| Good quality oocytes | LHB |
| Goodpasture's disease | HLA-DRB1, HLA-DQB1 |
| Gordon Holmes syndrome | RNF216 |
| Gout | APOE, APOA1, COMT, TNF, IL6, A1CF, ABCG2, PRPS1, ADRB3, HP |
| GRACILE syndrome | ABCC1, BCS1L |
| grade III astrocytoma | KRAS |
| Grange syndrome | YY1AP1 |
| Granular corneal dystrophies | TGFBI |
| granulomatosis with polyangiitis | CCR3, CD36, THBD, VTN, FCAR, CTLA4 |
| Granulosa cell tumor | CDKN2B, ST14, PRKAR2B, SGK1, FHIT, FANCF |
| Graves disease | HLA-DRB1, IL2RA, PDCD1, PPARG, MTHFR, KIR2DS2, KIR2DL2, HLA-DQA1, HLA-B, HLA-A, VDR, TNF, IL10, IFNG, IL6, TGFB1, IL1B, FASLG, FAS, GSTP1, GSTT1, GSTM1, RNASET2, IL18, CYP1A1, ICAM1, IL12A, ABCB1, TLR4, TP53, NR3C1, XRCC1, ESR1, ESR2, IL1A, IL1RN, IL2, CXCL8, APEX1, HLA-DPB1, PTPN21, HLA-DQB1, TEKT1, IL4, GC, CTLA4 |
| Graves ophthalmopathy | IL1RN, IL18, TNF, IL6, IL1B, IL2, IL12A, ICAM1 |
| Graves' disease | ADIPOQ, TG, ITGB3, TSHR, CD40, CTLA4, FKBP1B, TNF, IL13, ADRB2, PTPN22, IL23R, LTA, IL3, TP53 |
| Gray platelet syndrome | NBEAL2, GFI1B |
| Grebe dysplasia | GDF5 |
| Greenberg dysplasia | LBR |
| Greig cephalopolysyndactyly syndrome | GLI3 |
| Griscelli syndrome | MLPH, RAB27A, MYO5A |
| Growth delay due to insulin-like growth factor I resistance | IGF1R |
| Growth disorders | PPARG, PTPN11, IGFBP3, IGF1, IGFALS |
| Growth hormone deficiency | POU1F1, OTX2, LHX3, GHRHR, GHR, BTK, HESX1, LHX4 |
| Growth hormone insensitivity with immunodeficiency | STAT5B |
| growth hormone secreting pituitary adenoma | CDKN1A, HPGD |
| GSTM1 methylation infertility | MTHFR, GSTM1 |
| Guillain-Barre syndrome | HLA-DQA1, TNF, IL10, NOS2, FCGR3A, CD1D, TLR4, NR3C1, MMP9, HLA-DQB1, HLA-DRB1, APOE, PMP22, HCRT, CTSB, APOA4, CCL2 |
| Guttmacher syndrome | HOXA13 |
| Gynecomastia | CYP19A1, IGF1, AR |
| gyrate atrophy | OAT |
| H syndrome | SLC29A3 |
| Haematospermia | AMH |
| Haemoglobinopathies | G6PD |
| Haemolytic anaemia | G6PD |
| Haim-Munk syndrome | CTSC |
| Hairy cell leukemia | BCL6, CCND1, TP53 |
| Hairy-cell leukemia | TP53 |
| Hamamy syndrome | IRX5 |
| Hand-foot-genital syndrome | HOXA13 |
| Harlequin ichthyosis | ABCA12 |
| Hartnup disorder | SLC6A19 |
| Hartsfield syndrome | FGFR1 |
| Has a crucial role in spermiogenesis and male fertility | STK11 |
| Has a potential role in testis development and spermatogenesis | IQCH |
| Has critical effects on neonatal spermatogonial proliferation | ETV5 |
| Hashimoto disease | HLA-DQB1, HLA-DRB1, HLA-DQA1, VDR, TNF, IFNG, IL6, IL1RN, IL1B, TP53 |
| Hashimoto thyroiditis | CTLA4 |
| Have a regulatory role in control of meiosis and/or terminal differentiation of spermatogenic cells | POU5F1 |
| Head and neck cancer | RICTOR, RAD51, SNAI1, GSTM3, EZH1, SMC1B, SMAD1, DGCR8, TP53, RXRA, KDM4C |
| head and neck squamous cell carcinoma | WRAP53, CCND1, TNFRSF10A |
| Hearing Loss | COL1A1, PPARG, SERPINE1, MTHFR, PTPN11, TRNL1, GSTT1, GSTP1, GSTM1, GJA1, PLAT, CAT, F5, PON1, PON2, SOD2, NR1I2, PTGS2 |
| Heart disease | MIR146A, PTPN11, DCDC2C, HTR2A, SASH3, GATA4, LMNA, FAS, CHD7, HIF1A, UTS2, SOD3, SLC6A4 |
| Heart septal defect | CRELD1, NKX2-5 |
| Heart valve disease | LRP5, COL1A2 |
| Heinz body anemia | HBB |
| HELLP Syndrome | MTHFR, LEP, VEGFA, NFKB1, CRP, FAS, VWF, NR3C1, ADAMTS13 |
| Helsmoortel-van der Aa syndrome | ADNP |
| HEM skeletal dysplasia | LBR |
| Hemangioma | KDR |
| Hematologic cancer | TP53 |
| Hematologic diseases | HFE, IDH1 |
| Hemiconvulsion-hemiplegia-epilepsy syndrome | CACNA1A |
| Hemiplegic migraine | CACNA1A, ATP1A2, SCN1A |
| Hemochromatosis | HLA-DRB1, HLA-B, HLA-A, TNF, IL6, TGFB1, F5, SMAD1, SLC11A2, TF, HFE, SERPINA1, BMP4, FTH1, HJV, TFR2, SLC40A1, HAMP |
| Hemoglobin C disease | HBB |
| Hemoglobinopathy | HBB |
| Hemoglobinuria | HLA-DQB1, HLA-DRB1, HLA-C, HLA-B, G6PD, HLA-A |
| Hemolytic anemia | ABO, FCGR2A, ITPA, HP, AK1, RHAG, GCLC |
| Hemolytic anemia due to glutathione peroxidase deficiency | GPX1 |
| Hemolytic anemia due to glutathione reductase deficiency | GSR |
| Hemolytic uremic syndrome | AGTR1, SERPINE1, MTHFR, CD46, F5, ACE |
| Hemolytic-uremic syndrome | HP, CD36, MBL2, PLA2G7, CFH |
| Hemophagocytic lymphohistiocytosis | PRF1 |
| Hemophilia | HLA-DQB1, HLA-DRB1, SERPINE1, MTHFR, HLA-C, HLA-B, HLA-A, TNF, CCR5, IL10, IL4, IL18, VWF, F5, IL1B, HLA-DPB1, F8, GP1BA |
| hemophilia B | F2 |
| Hemorrhage | MTHFR, ANXA5, VWF, CDKN2A, F2R, SERPINA3 |
| Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | JAM3 |
| Hemorrhagic disorders | ZP1 |
| Hemorrhagic Fever with Renal Syndrome | HLA-DRB1 |
| Hennekam lymphangiectasia-lymphedema syndrome | CCBE1 |
| Henoch-Schoenlein purpura | CCL2, CD86, AGT |
| Henoch-Schonlein purpura | PAX2, TNF, NOS2, NOS3, VEGFA, TGFB1, IL1B |
| Heparan sulfate proteoglycan gene defects | EXT1, GPC6, HSPG2, EXT2, GPC3 |
| Hepatic angiomyolipoma | TSC2 |
| Hepatic angiosarcoma | TP53, KRAS |
| Hepatic glycogen storage disease | PHKB, GYS2, GBE1, AGL, PHKG2, SLC37A4, PHKA2, PYGL |
| Hepatic iron and fibrosis | HFE |
| Hepatic lipase deficiency | LIPC |
| Hepatic porphyria | PPOX, UROD, HMBS, ALAD |
| Hepatic Veno-Occlusive disease | GSTT1, GSTP1, GSTM1, ADAMTS13 |
| Hepatic venoocclusive disease with immunodeficiency | SP110 |
| Hepatoblastoma | APC, NAP1L1, SALL1, SALL4 |
| Hepatocellular carcinoma | ARID2, KEAP1, TGFA, FZD7, AXIN1, ARID1A, TGFBR2, TP53, GGT1, TET1, MIR223, MIR25, SIX1, JAG1, CDKN3, GPC3, ASPM, ALDH2, HAMP, HDAC2, CCL2, HNRNPA2B1, KRAS, MIR200B, AK3, MIR23A, DYNLRB1, SERPINB5, MIR107, HNF4A, KLF4, SMAD4, TLR9, MIR224, BLZF1, NR1H4, MIRLET7C, WRAP53, YWHAZ, TSC2, STMN1, MCM7, HNRNPAB, MIR96, F2, SNW1, HDAC4, PPP1R9B, MIR93, TLR3, CAB39, ATP5PB, HNRNPD, CADM2, AKR1B1, MIR125A, HNRNPA1, CBX4, CSK, HMGCS2, KIF1B, MIR130B, NKX3-1, RTKN, HNRNPH1, MIR199B, IDH2, HRAS, MBL2, JAK2, DYNLRB2, CTLA4, EPCAM, EFEMP1, CBX7, RECQL, REG3A, KAT2B, VEGFC, SPP1, HLA-DPA1, APC, AZIN1, SNRPE, MIR27A, JAK1, ASS1, PNPLA3, TNF, IFNA2, CYP2E1, KMT2B, MIR196A2, CCND1, PPARA, ADIPOQ, TYMS |
| hepatocellular clear cell carcinoma | IDH2 |
| Hepatopulmonary syndrome | RARA, PRKCA, SERPINE2 |
| Hereditary angioedema | F12, SERPING1, F2, F7 |
| Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps | COL4A1 |
| Hereditary arterial and articular multiple calcification syndrome | TNFRSF11B |
| Hereditary diffuse leukoencephalopathy with spheroids | CSF1R |
| Hereditary elliptocytosis | SPTB, SLC4A1, EPB41 |
| Hereditary fructose intolerance | ALDOB |
| Hereditary fructose intolerance syndrome | ALDOB |
| Hereditary gingival fibromatosis | SOS1, REST |
| Hereditary hemorrhagic telangiectasia | SMAD4, ENG, ACVRL1, GDF2, TNF |
| Hereditary hyperferritinaemia-cataract syndrome | FTL |
| Hereditary hypophophatemic rickets with hypercalciuria | SLC34A3 |
| Hereditary hypophosphatemic rickets with hypercalciuria | SLC34A1 |
| Hereditary hypotrichosis simplex | RPL21, SNRPE, KRT71, APCDD1, HR, KRT74 |
| Hereditary lymphedema | GJC2, FLT4, VEGFC, PIEZO1 |
| Hereditary mixed polyposis syndrome | BMPR1A |
| Hereditary multiple exostoses | EXT1 |
| Hereditary neuralgic amyotrophy | SEPTIN9 |
| Hereditary neuropathy with liability to pressure palsies | PMP22 |
| Hereditary pancreatitis | SPINK1 |
| Hereditary sensory and autonomic neuropathies | NTRK1 |
| Hereditary sensory and autonomic neuropathy | CCT5, SCN11A, RETREG1, ATL1, WNK1, DST, RAB7A, ELP1, ATL3, SPTLC1, PRDM12, SPTLC2, KIF1A |
| Hereditary sensory neuropathy | WNK1, KIF1A |
| Hereditary spastic paraplegia | BSCL2, HSPD1, ENTPD1, GJC2, IBA57, FARS2, ERLIN1, SPG21, ARL6IP1, WASHC5, B4GALNT1, REEP1, AP5Z1, C19orf12, ATL1, TECPR2, ATP13A2, TFG, AMPD2, SPG11, ALDH18A1, C12orf65, DDHD2, DDHD1, KIF5A, SPART, FA2H, GBA2, AP4S1, DSTYK, PNPLA6, VPS37A, SLC33A1, CAPN1, ERLIN2, ZFYVE26, AP4B1, AP4M1, KIF1A, SPG7, NT5C2, RTN2, MAG, CPT1C, L1CAM, NIPA1, SPAST, AP4E1, UCHL1, L2HGDH |
| Hereditary spastic paraplegia 10 | KIF5A |
| Hereditary spastic paraplegia 30 | KIF1A |
| hereditary spastic paraplegia 44 | GJC2 |
| hereditary spastic paraplegia 9A | ALDH18A1 |
| Hereditary spherocytosis | EPB42, SPTB, SLC4A1 |
| Hereditary stomatocytosis | SLC2A1, KCNN4, ABCB6, SLC4A1, PIEZO1, RHAG |
| Hermansky-Pudlak syndrome | AP3B1, HPS3, AP3D1, HPS4, DTNBP1, BLOC1S6, HPS1, HPS5, CXCR4 |
| Hermansky-Pudlak syndrome 1 | HPS1 |
| Hermansky-Pudlak syndrome 3 | HPS3 |
| Heterotaxy | CFAP53, ACVR2B, MMP21, ZIC3, GDF1 |
| Hidradenitis suppurativa | TNF |
| High blood pressure | SCNN1G, HSD11B2, SCNN1B, NR3C2 |
| High sperm counts | F5 |
| Highly overexpressed in cryptorchid samples | TNFAIP3 |
| Hirschsprung disease | SOX10, GFRA1, GDNF, NRG1, EDNRB, RET, EDN3 |
| Hirschsprung's disease | HDAC8, NGFR, RET, WNT8B, EDN3, EDNRB, NRTN |
| Hirsutism | CYP21A2, LHB, HLA-B, FSHB, NR5A1, SRD5A1, HSD3B2, SRD5A2 |
| Histidinemia | HAL |
| HMG-CoA synthase deficiency | HMGCS2 |
| Hodgkin disease | HLA-DRB1, NBN, PPARG, TNF, IL10, IL6, IFNG, FAS, IL1B, VEGFA, IL1RN, GSTT1, GSTP1, GSTM1, GPX4, GPX1, IL4, IL18, CYP1A1, BAX, CD79A, CASP6, CASP4, MLH1, MDM2, HLA-DPB1, CXCL8, IL6R, IL5, IL1R2, ERCC2, CASP3, CASP1, RAG1, LIG4, IL6ST, ERCC1, IL1A, IL2, IL12A, ICAM1, TLR2, TLR4, TP53, MYC, BCL2, PTGS2, XRCC1, XPC, ATM, CASP9, BRCA1, CASP8, BRCA2 |
| Hodgkin lymphoma | NFKBIE, NFKBIA, REL |
| Hodgkin's lymphoma | SDC1, JUNB, PRAME, NFKBIA |
| Holocarboxylase synthetase deficiency | HLCS |
| Holoprosencephaly | APOE, SHH, APOB, ZIC2, CDON, SIX3, TGIF1, GLI2, PTCH1 |
| Holt-Oram syndrome | TBX5, SALL4 |
| Homocystinuria | CBS, NOS3, MTHFR, MTRR, MTR |
| Hoyeraal-Hreidarsson syndrome | DKC1 |
| Human fertilization capacity | ERp57, PDIA3 |
| Human oocyte maturation | APOE, APOA1 |
| Human sperm capacitation | IGF1R |
| Human sperm capacitation and acrosome reaction | CST3 |
| Human spermatogenesis, oligozoospermia | LH-RH |
| Human spermatogenic defect | COMT, TSSK2, CYP17A1, CYP19A1, PARP1, GNRH1, ESR1, CYP1A1, ESR2 |
| Huntington disease | HTT |
| Huntington disease-like syndrome | PRNP, JPH3 |
| Huntington's disease | UCHL1, BDNF, HDAC1, ATG7, HEXA, CBS, NEAT1, MEG3, APOA4, SETDB1, OPTN, BCHE, SLC1A2, AGTR1, UCP2, HNMT, LINC00342, NCOR1, FOXP1, NGFR, ELK1, SLC18A3, CREBBP, HTT, CTSH, PSMB9, GIT1, PCP4, HPCA, TUG1, DGCR5, ATF2, F2, PPARGC1A, TRIP10, MT-CO2, MAP2, MTNR1A, PPP1R9A, EIF2AK2, ABAT, GLUL, CNTF, GRIN2B, HAP1, GRIN2A, TFAM, MAP3K5, NPY, GRIK2 |
| Hutchinson-Gilford progeria syndrome | LMNA, KRT1, WFS1 |
| Hyaline fibromatosis syndrome | ANTXR2 |
| Hydrocephalus | NTF3, L1CAM |
| Hydrolethalus syndrome | HYLS1, KIF7 |
| Hydronephrosis | AGT |
| Hydrosalpinx | NFKB1, VEGFA, CFTR, CDH1, MUC1, FLT1, LIF |
| Hydroxykynureninuria | KYNU |
| Hyper IgM syndromes, autosomal recessive type | CD40, UNG |
| Hyper-IgE syndrome | PGM3, DOCK8 |
| Hyperalphalipoproteinemia | APOA1, CETP, APOC3 |
| Hyperandrogenism | INSR, PPARG, LHCGR, IL6, STK11, SHBG, CYP17A1, CYP19A1, GNRH1, CYP21A2, AKR1C3, LHB, AMH, PSA, CYP11A1, PON1, ACE, AR, FTO, FSHR, IL18, SRD5A1, HSD3B2, NR3C1, NR5A1, IGF1 |
| Hyperbilirubinemia | SLCO1B3 |
| Hyperbiliverdinemia | BLVRA |
| Hypercalcemia | VDR, CYP24A1 |
| Hypercarotenemia and vitamin A deficiency | BCO1 |
| Hypercatabolic hypoproteinemia | B2M |
| Hyperchlorhidrosis isolated | CA12 |
| Hypercholesterolemia | IL1B, ACHE, ABCA1, NAT2, AGTR1, SERPINE1, MTHFR, LEPR, APOE, INSR, DAO, PPARG, TNFRSF1B, BDNF, IL10, TNFRSF1A, PLIN, RARA, IL1A, NOS3, PIK3CB, SOD1, PRKAA1, HTR2A, TCF7L2, VEGFA, GSK3B, GNAO1, GHRL, IGF1, CYP1A2, CYP1A1, ACE, ABCB1, SOD2, IL6, TGFB1, PON1, FLT1, FASLG, RXRA, PON2, ICAM1, APOB, TLR4, HIF1A, KDR, OXT, NR3C1, PIK3CA, CYP2B6, ACAT1, EPHX2 |
| Hyperekplexia | GLRA1, SLC6A5, ATAD1 |
| Hyperekplexia and epilepsy | ARHGEF9 |
| Hyperemia | NOS3 |
| Hypereosinophilic syndrome | PDGFRA |
| Hyperferritinemia-cataract syndrome | FTL |
| Hyperglycemia | PPARG, PON1, NOS3, TCF7L2, TSHB, CCL11, SDC1, F2, F7, PTCH1, HSPG2, HP, PDX1, CYP2C9, NEUROD1 |
| Hyperglycinuria | SLC6A20, SLC36A2, SLC6A19 |
| Hypergonadotrophic hypogonadism | LEP |
| Hypergonadotropic anovulation | AMH |
| Hypergonadotropic hypogonadism | APOA1, LMNA, DAZ1, INHA, CYP17A1, HSD17B3, CYP19A1, AR, LEP, WT1, FSHR, TNF |
| Hypergonadotropic ovarian failure | BMP15 |
| Hypergonadotropic hypogonadism | WT1 |
| Hyperhomocysteinaemia | MTHFR |
| Hyperhomocysteinemia | MTHFR, APOE, COMT, NOS3, MTHFD1, CBS, F5, PON1, ACE, PON2, SLC19A1, MTRR, MTR, CXCL5, CXCL1 |
| Hyperimmunoglobulin syndrome | CD40 |
| Hyperinsulinism | PPARG, IL6, DDC, LIPC, HP, PTPRF, AGT, PARL, GLUD1, INS, MTTP, LTA, ABCC8, CDKN1C, GCK |
| Hyperkalemic distal renal tubular acidosis | CUL3, WNK4, WNK1, SCNN1G, SCNN1A, SCNN1B, NR3C2 |
| Hyperkalemic periodic paralysis | SCN4A |
| Hyperkeratosis | CAT, ERCC2 |
| Hyperlipidemia | APOE, INSR, APOA1, PPARG, TCF7L2, CFTR, ABCB1, APOB, USF1, ACE, LPL, LDLR, APOA5 |
| Hyperlipidemias | SPINK1, MTHFR, TNF, PLTP, MTR |
| Hyperlipoproteinemia | APOB, PLTP, APOE |
| Hyperlipoproteinemia type IIa | LDLR |
| Hyperlipoproteinemia type III | APOC3 |
| Hyperlipoproteinemia, type I | LPL, GPIHBP1 |
| Hyperlipoproteinemia, type V | APOA5 |
| Hyperlysinemia | AASS |
| Hypermanganesemia with dystonia | SLC30A10, SLC39A14 |
| Hypermethioninemia | ADK, GNMT, AHCY, MAT1A |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | SLC25A15 |
| Hyperostosis corticalis generalisata | LRP5 |
| Hyperparathyroidism | SPINK1, VDR, VWF, LHCGR, IL10, TGFB1, SLC22A14, IL2, TGFBR3, VEGFA, PRL, GPR56, GPR37, GABBR2, GNRH1, GFRA1, GC, CFTR, IL4, NPHP1, SLC19A1, EGF, EGFR, SPACA1, CACNA1S, BMP7, NTRK1, RYR3, FGF9, SLC9A3, BMP8A, SLC2A1, IL2RA, HGF, MEN1 |
| Hyperphosphatasia with mental retardation syndrome | PGAP3, PIGO, PIGV, PIGW, PIGY, PGAP2 |
| Hyperpigmentation | KIT |
| Hyperpigmentation with or without hypopigmentation | KITLG |
| Hyperplasia | BAX |
| Hyperprolactinemia | APOB, PRLR, PRL, INHBA, AMH |
| Hyperprolinemia | ALDH4A1 |
| Hypersensitivity | STAT1, HLA-B, TNF, IL10, TGFB1, FNDC3A, TLR2, TLR4, ACP1, HLA-A, HLA-DRB1, HLA-C, IL1B, GSTT1, GSTP1, GSTM1, IL4, IL18 |
| Hypertension | ADCY10, BMPR1B, PKD1, AGTR1, HLA-DQB1, HLA-DRB1, KISS1, SERPINE1, LIPE, MAEL, MTHFR, LEPR, APOA1, HSPA1B, HLA-DQA1, HLA-B, ALDH1A2, COMT, VDR, TNFRSF1B, TNF, BDNF, INSR, PPARG, BMPR2, POLG, HLA-A, SERPINC1, NOS2, TGFB3, IL6, IL10, HMOX1, MYB, CYP11A1, NOS3, PGR, IL1A, LEP, TRNL1, SOX13, ATP2B4, HSPA1L, ADM, TDRD5, CYP17A1, TCF7L2, CYP19A1, VEGFA, IL1RN, CRP, SAA1, GSTM3, GSTP1, GSTM1, GPX1, GNAS, GSTT1, GHRL, GH1, GDF15, CYP11B2, HFE, CYP21A2, NR3C1, APOB, MTR, ATM, HSD3B2, IL5, IGF2, IGF1R, HSD3B1, CAT, CBS, PTGS1, HGF, NTRK3, PlGF, ACE, AR, CCR5, F5, PON1, ESR1, VWF, FSHR, PNLDC1, F10, FGFR3, FGFR2, FGFR1, FLT1, SMAD1, SLC9A3, ESR2, CYP1A2, CYP1A1, IGF1, ACE2, ABCB1, SOD2, SERPINA3, PON2, PLAT, IL18, CCL5, EDNRA, KDR, MTRR, PTGS2, EGF, CYP1B1, ABCC1, TGFB1, IL1B, HLA-DPB1, BGLAP, CYP11B1, CYP24A1, SBF1, MMP9, MEF2A, SERPINA1, BCHE, F7, HSPA8, EDN1, UTS2, THBD, VCAM1, EPOR, ANGPT1, SERPINF2, NPPC, ENO2, UCN, S100B, PRKCD, TNFRSF11B, RAMP2, CYP2C9, ADRA1A, LOX, UCN2, KLK1, CTF1, ADRB1, CYP2J2, LPL, SLC8A1, AD |
| Hypertension exacerbated in pregnancy | NR3C2 |
| Hyperthyroidism | MTHFR, VDR, HFE, SERPINA7 |
| Hypertriglyceridemia | USF1, APOE, APOA1, PPARG, HFE, APOB, ACAT1, LPL |
| Hypertrophic cardiomyopathy | PRKAG2, MYBPC3, ACTC1, TTN, CSRP3, VCL, MYL2, MYL3, MYH6, MAP1LC3A, BECN1, KLHL41, ADGRL4, UCN, MIR451A, FHL1, DSP, CTSL, LAMP2, NDUFS2, AGT, ANKRD1, CACNB2, SCO2, SLC25A4 |
| Hypertrophy | MTHFR, MYH7, AR, ESR1, GDF15, ACE, EDNRA |
| Hypertrypsinemia | CFTR |
| Hyperuricemia | MTHFR, APOA1, SLC2A9, INS |
| Hypoaldosteronism | CYP11B2 |
| Hypoalphalipoproteinemia | ABCA1, APOA1 |
| Hypoandrogenism | AR |
| Hypobetalipoproteinemia | PCSK9 |
| Hypochromic microcytic anemia | SLC11A2, TNF |
| Hypodontia | TGFB1 |
| hypoglycemia | EPO, UCP3, GCK, HNF4A, CYP2C9, AKT2, GLUD1 |
| Hypogonadism | PROKR2, GNAS, HFE, AR, LHB, NOS3, LH, BGLAP, USP26 |
| Hypogonadism, Male infertility | VAX1 |
| Hypogonadotrophic hypogonadism | VDR |
| Hypogonadotropic hypogonadism | GNRH1, LHCGR, KAL2, LHB, INSL3, FSHB, AMH, SOX2, EMX1, LEP, NR5A1, PACAP, ANOS1, PROKR2, GNRHR, WDR11, VDR, SOX3, DAZ1, NOS3, DAX1, KAL1, TAC3, INHBA, CHD7, AT3, VAX1, USP26, GNAS, GnRH, IL17RD, KISS1R, SEMA3A, KISS1, SOX9, BGLAP, DUSP6, AR, F5, FGFR1, F10, FGF8, HFE, IGF1, SPRY4, FLRT3, FGF17, HS6ST1, LHRH, GPR54 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | GNRHR |
| Hypogonadotropic hypogonadism | DAZ1, F10, INHB, KAL1, EBF2 |
| Hypogonadotropic hypogonadism (HH) | FSHB |
| Hypohidrotic ectodermal dysplasia | EDARADD, KDF1, EDA, EDAR, IKBKG |
| Hypoinsulinemic hypoglycemia with hemihypertrophy | AKT2 |
| Hypokalemic periodic paralysis | SCN4A, KCNE3 |
| Hypolipoproteinemia | APOA1 |
| Hypomagnesemia | EGF, CNNM2, CLDN16, FXYD2, TRPM6 |
| Hypomenorrhea | ESR1 |
| Hypomyelinating leukodystrophy | HSPD1, GJC2, HIKESHI, FAM126A, RARS1, POLR1C, PYCR2, POLR3A, AIMP1, TUBB4A, POLR3B |
| Hypomyelinating leukodystrophy 2 | GJC2 |
| Hyponatremia | TRPV4 |
| Hypoparathyroidism | GCM2, GATA3, TBCE |
| Hypoparathyroidism with sensorineural deafness and renal dysplasia | GATA3 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | TBCE |
| Hypophosphatasia | ALPL |
| Hypophosphatemic rickets | FGF23, PHEX, ENPP1, SLC34A3, CLCN5 |
| Hypopituitarism | SOX3, POU1F1, ANOS1, LHB, GH1, GNRHR, PROP1, SOX2, NR0B1 |
| Hypoplastic left heart syndrome | GJA1, NKX2-5, FOXP1 |
| Hypoplastic ovary | FSHR |
| Hypospadias | BMP7, SRY, GSTT1, GSTM1, CYP1A1, NR5A1, HSD3B2, ATF3, SOX9, BMP4, WT1, ARNT2, AR, ESR1, AHR, NR1I2, SRD5A2, AMH, FGF8, FKBP4, FGFR2, ESR2, CYP11A1, CYP17A1, INSL3, CYP1A2, HSD17B3, MAMLD1, ZNF503-AS2, MIR1273C, IRX5, KLF2, SORBS1, HNRNPUL1, EXOC3, SLC25A25, PROKR2, ADK, CCDC26, DGKK, CCN2, DNAH6, HBEGF, DUSP1, EBF1, EGR1, EIF4A1, EYA1, FKBP52, SULF1, ZFPM2, HAAO, DAAM2, FOS, FOSB, GREM1, GLI2, GLI3, CCDC59, NR4A1, HOXA4, HOXD11, HOXD13, IGFBP3, CYR61, JUN, JUNB, KCNMA1, LAMA4, FENDRR, MIRLET7B, MIR1-1, MIR145, MIR203A, MIR369, MYBPH, GADD45B, ZFHX3, MYO1D, NR4A2, MIR376A1, MIR377, MIR424, TRIM17, EGFL7, CHD7, PDGFC, RTN4, PTGS2, MIR497, RGS1, EEFSEC, SOX3, ZFP36, BTG2, IRX6, LMAN1L, TAX1BP1, SOCS3, PKDCC, CD9, SCARB1, IER2, CD69, ZEB2 |
| Hypospadias without micropenis | AR |
| Hypospermatogenesis | NDRG2, USP9Y, DAZ1, NOS2, MND1, ACR, CCNA2, GAPDHS, PTGS2, PCNA, NR5A1, FSHB, AR, INSL3, CDY1, TGFB1, MCL1, DFFRY, SPATA22, CLDN11, CPP32, VCY2, DDX3Y, ESR1, IL1B, FASLG, INHBA, ESR2, LHB, KCNE3, DCAF13P3, LINC01001, PDCD6, MAMLD1, CST8, TSPAN5, CDH13, ACTR1A, CDK7, GPA33, RCAN2, CCNO, KLHL41, CDKN3, ABCA10, KLF2, TUBB4B, CDR2, NXF1, SEMA4D, CEBPD, ARL6IP5, RPP38, SPAG5, ARID3B, IGF2BP1, SPINT2, GNB5, CETN2, FUT9, YME1L1, TCFL5, STAG3, MAP3K2, WASF3, ACTL7B, ACTL7A, MAN1A2, MORF4, PRDX3, POP1, PDIA5, ERP29, CLP1, FERMT2, SLC27A4, RAB35, DSTN, SLC35D2, KERA, NUP42, CEP43, FOXN3, CD160, CHGB, CDC37, FAM107A, PTENP1, POLG2, CAVIN3, MED8, CDCA5, GOLM2, GPN1, EXOC3, CMTM1, CYGB, XKR4, TUBGCP5, KCTD12, ALPK2, KLHDC3, OLIG1, AGAP3, SH2D1B, RAB3IP, GALNT15, TMC2, CLK2, GTSF1, H4-16, IFI27L1, RNASE11, TPPP2, NTAN1, CCDC78, SEPT12, TMEM219, SNX20, SLC38A10, HEXIM2, KLHDC9, ATXN7L2, TCEANC2, LRRC39, SPATA17, TSACC, NAXE, TSHZ2, C20orf85, TBC1D20, MBOAT2, ICA1L, COL13A1, UBR3, AHSA2P, CRYBG3, IQCF1, LIN54, COX8A, NCOA7, |
| Hypospermatogenesis (HS) | ACR, MND1, SPATA22 |
| Hypotension | GNAS, ACE, ABCB1 |
| Hypothalamic amenorrhea | INHA, INHBA |
| Hypothalamic amenorrhoea | LEP |
| Hypothalamic amenorrhea | IL6, DLK1 |
| Hypothyroidism | HLA-DQB1, HLA-DRB1, TNF, HLA-B, INSR, HSPA1L, GNAS, HLA-A, HSPA1B, THBD, PTPN22, TSHB |
| Hypotonia, ataxia, and delayed development syndrome | EBF3 |
| Hypotrichosis | DSG4 |
| Hypotrichosis 1 | SNRPE |
| Hypotrichosis and recurrent skin vesicles | DSC3 |
| Hypotrichosis-lymphedema-telangiectasia syndrome | SOX18 |
| Hypoxia | HIF1A |
| Ichthyosis | KRT1, KRT10, KRT2 |
| Ichthyosis bullosa of Siemens | KRT2 |
| Ichthyosis follicularis, alopecia, and photophobia syndrome | MBTPS2 |
| Ichthyosis prematurity syndrome | SLC27A4 |
| Ichthyosis vulgaris | FLG |
| Ichthyosis with hypotrichosis | ST14 |
| Idiopathic asthenospermia | MIR141 |
| Idiopathic asthenozoospermia | TEKT4, PRDX1, XAB2, ACTB |
| Idiopathic azoospermia | ERCC1, ERCC2, XPD, ESR1, AMH, HIF1A, HLA, SERPINA5, TSPYL1, N-WASP |
| Idiopathic generalized epilepsies | SLC2A1, CLCN2, GABRD, CACNB4, SLC12A5, CACNA1H, GABRA1 |
| Idiopathic hyperCKemia | CAV3 |
| Idiopathic hypogonadotrophic hypogonadism | FGFR1 |
| Idiopathic hypogonadotropic hypogonadism | CHD7, WDR11 |
| Idiopathic hypogonadotropic hypogonadism (IHH) | LHRH, GnRHR, KAL1, IL17RD, TAC3 |
| Idiopathic hypogonadotropic hypogonadism | FV, AT III |
| Idiopathic hypogonadotropic hypogonadism (IHH) | FV, FSHB, LHB, SOX3, SOX9 |
| Idiopathic infertility | TERRA, SLC6A14, P34H |
| Idiopathic infertility in IVF | DCXR |
| Idiopathic inflammatory myopathies | IFNG, IL4 |
| idiopathic juvenile osteoporosis | LRP5 |
| Idiopathic male infertility | NAT2, MEST, PEMT, TCblR, EPPIN, PTGS2, DIRAS3 |
| Idiopathic male subfertility | DM1PK |
| Idiopathic male infertility | ApE1 |
| Idiopathic micropenis | NR5A1 |
| Idiopathic nonobstructive azoospermia | CREM |
| Idiopathic nonobstructive azoospermia (INOA) | WT1 |
| Idiopathic nonobstructiveazoospermia | ATM |
| Idiopathic nonobstructive azoospermia (INOA) | E2F1, ATM |
| Idiopathic obstructive azoospermia | CFTR |
| Idiopathic oligoasthenozoospermia | GPX1 |
| Idiopathic oligozoospermia | PRM1, TTTY2L2A |
| Idiopathic pulmonary fibrosis | TERC, SFTPC, NTRK2, CXCL5, CFLAR, THBD, IL1RL1, APOA1, TFPI, EHMT2 |
| Idiopathic spermatogenesis impairment | H2BFWT |
| Idiopathic thrombocytopenic purpura | HLA-DQB1, HLA-DRB1, TNF, HLA-B, IL6, IL10, IL2, IL1RN, IFNG, IL1B, IL4, TLR4, TLR2 |
| Idiopathic-impaired spermatogenesis | SERPINA3 |
| Idiopathic azoospermia | HLA-E, HSF2 |
| Idiopathic azoospermia or oligozoospermia | XPC |
| Idiopathic infertility | CD16, CD56 |
| IHH | FGF8 |
| IMAGE syndrome | CDKN1C |
| IMAGE-I syndrome | POLE |
| Iminoglycinuria | SLC6A20, SLC36A2, SLC6A19 |
| Immature spermatids | ATP6, ATPase6 |
| Immature spermatozoa with excess residual cytoplasm | ESR1, ESR2 |
| Immotile sperm and infertility | VDAC3 |
| Immotile-Cilia syndrome | Dynein, DNCL1 |
| Immune thrombocytopenia | FCGR2C |
| Immune-mediated infertility | SPRASA |
| Immunodeficiency | FCGR3A, TGFB1, NBN, NFKB1, IL2RA, MALT1, IL21, LIG4 |
| Immunodeficiency associated with DNA repair defects | MRE11, BLM, LIG1, MCM4 |
| Immunodeficiency without anhidrotic ectodermal dysplasia | IKBKG |
| Immunodeficiency-centromeric instability-facial anomalies syndrome | ZBTB24, CDCA7, HELLS |
| Immunoglobulin alpha deficiency | CTLA4 |
| Immunoinfertility | HLA-DRB1, HLA-DQA1, TNF, DLK1, YLPM1, SPRASA, IL21, RANTES, IL12A, IL12 |
| Immunoregulatory role in male reproductive system and in seminal plasma | HLA-G |
| Impaired endometrial receptivity | ITGAV, PGR, ESR1 |
| Impaired human spermatogenesis | ESR1, ITGAV, TNFRSF1B, TNF, IL6, IL10, MSH5, MLH1, HSPA2, SYCP3, TNFR1, PMS2, MLH3, ATR, MSH4, IL1B |
| Impaired infertility | RAG1 |
| Impaired male infertility | RHOX5, RHOX8 |
| Impaired oocyte quality | GDF9 |
| Impaired reproduction | MMP9, MMP2, TIMP1 |
| Impaired sertoli cell function | FSHB, TF |
| Impaired sperm fertilizing ability | CRISP1 |
| Impaired sperm maturation | LCN6 |
| Impaired sperm motility | LDHC, DNAH1, VPS13A |
| Impaired spermatogenesis | CATSPER1, H4-16, COMT, CREB1, CYP19A1, FSHR, BRD7, INHB, ART3, NWC, ALDH1A2, MTMR2 |
| Impaired testosterone synthesis | HSD17B3 |
| Impairment in fertility from the onset of sexual maturity | SNX1 |
| Impairment of testosterone secretion | AMH |
| Impairs spermatogenesis | AQP4 |
| Impairs spermatogenic function | CIRBP |
| Impairs the migration of sperm into oviduct in mouse | ADAM3A |
| Implantation failure | CRP, NFKB1, LEPR, IL1B, HLA-G, MTHFR, IL2RA, IL6, IL10, LIF, FST, LAMB1, IL2, MMP2, BIRC5, HBEGF, ERBB4, ITGAV, SERPINE1, PAEP, PRL, PLAU, ITGB1, TIMP2, IFNG, MMP9, MMP-7, INHA, CGA, TIMP1, IL18, IL12A, TP53, PTGS2 |
| Important acrosomal protein | SPACA7 |
| Important component of germ cell-Sertoli cell and/or germ cell-germ cell communication during spermatogenesis | FGFRL1, FGF4 |
| Important during development of acrosomal caps in the early spermatids | GM2A |
| Important for epigenetic reprogramming during spermatogenesis | EZH2, MBD1, MBD2, MBD3L1, BRDT |
| Important for epigenetic reprogramming during spermatogenesis. | EZH2, MBD1, BRDT, MBD3L1, MBD2 |
| Important for human spermatozoa function | TCTEX1D4 |
| Important for linkage of sperm head to tail, male fertility | ODF1 |
| Important for male infertility | BSPH1 |
| Important for mouse spermatogenesis | DNAJB13 |
| Important for normal spermatogenesis and sperm function | STRBP |
| Important for regulation of normal spermatogenesis as well as spermatozoa capacitation and motility | PPP1CC |
| Important for regulation of spermatogenesis | HAGH |
| Important for sperm flagella and the acrosome region | CCDC189 |
| Important for sperm maturation and capacitation | CLU |
| Important for sperm motility | TRPV4 |
| Important for sperm motility, Male infertility | TRPV4 |
| Important for spermaogonial differentiation | GFRA1, KIT, SOHLH2 |
| Important for Spermatogenesis | OSR1, DDX5, TOR1A, KDM1A, STK39 |
| Important for spontaneous acrosome reaction | IZUMO1 |
| Important for sustained spermatogenesis | PHF13 |
| Important for testicular descent | INSL3 |
| Important for testosterone production in Leydig cells | LHX9, SMURF1 |
| Important in cytoskeletal organization during Mammalian testis morphogenesis and gamete progression | DAAM1 |
| Important in mammalian spermiogenesis | TBC1D21 |
| Important in sperm penetration of the zona pellucida after sperm PKC is activated during the acrosome reaction | Adam24 |
| Important role in spermiogenesis | SEC23IP |
| Impotence | HDAC4, THBD, FGF2 |
| Improves chances of IVF success | PPARG |
| in situ carcinoma | ALPL, PDGFRA, ALOX5, AGR2, ZNF354A, IGFBP6, PTGES, PDPN, ESR1, MKI67, SFN |
| Inclusion body myopathy 3 | MYH2 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | VCP, HNRNPA1, HNRNPA2B1, TNF |
| Inclusion body myositis | CD36, CSNK1A1, TUBG1, DAG1, MYH2 |
| Incomplete fusion of the scrotal sac | GLI2, GLI3 |
| Incomplete maturation arrest (IMA) | IL7R, IL1B, IL1RN |
| Incomplete testicular feminization | AR |
| Incontinentia pigmenti | IKBKG |
| Increase the proliferation and differentiation of spermatogonia | RARA |
| Indispensable for the adhesion of spermatocytes and spermatids to Sertoli cells and for their normal differentiation into mature spermatozoa | CADM1 |
| Induced the sperm acrosome reaction in vitro | ZP3 |
| Induces apoptosis at the prophase meiosis of the primary spermatocytes thereby causing male sterility | MYC |
| Induces germ cell apoptosis and leads to infertility | PXT1 |
| Induces sperm cell apoptosis | SPATA17 |
| Inducing sperm differentiation and maturation | TUSC3 |
| Infantile ascending hereditary spastic paralysis | ALS2 |
| Infantile bilateral striatal necrosis | ATP6, NUP62 |
| Infantile cerebellar-retinal degeneration | ACO2 |
| Infantile cortical hyperostosis | COL1A1 |
| Infantile hemangioma | ANTXR1 |
| Infantile hypotonia with psychomotor retardation and characteristic facies | TBCK, UNC80, CCDC174, NALCN |
| Infantile liver failure | NBAS, LARS1, TRMU |
| Infantile myofibromatosis | NOTCH3, PDGFRB |
| Infantile or early childhood epileptic encephalopathy | ATP6V1A, GABRB2, PPP3CA |
| Infantile progressive bulbar palsy | SLC52A3 |
| Infantile Refsum disease | PEX2, PEX26, PEX1 |
| Infantile-onset limb and orofacial dyskinesia | PDE10A |
| Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | PTRH2 |
| Infertility | SHBG, GSTM1, IL6, CXCL8, LEP, TNF, CD16, LIF, SOD1, CSF1, ESR2, FAS, SLC6A14, INSR, AR, RXRA, CD56, INHBA, RAG1, LIG4, FKBP6, TERRA, IFNG, TLR2, GSTT1, PTGS2, BCL2 |
| Inflammation | IL2RA, PPARG, OSR1, CREB1, TGFB1, IL1B, FPR1, FTO, CCL5 |
| Inflammation memory disorders | APOE |
| Inflammatory bowel disease | EGFR, HORMAD2, MLH1, NAT2, HLA-DQB1, HLA-DRB1, PDCD1, SERPINE1, NFKB1, APOE, HLA-DQA1, VDR, TNFRSF1B, TNF, MTHFR, PPARG, SLC22A5, IL6, VEGFA, C3, TNFRSF1A, TF, CCR5, GSTT1, GSTM1, ACE, ABCB1, IL1RN, PLAT, ICAM1, TP53, NR1I2, TLR4, MTRR, CLEC7A, ECM1, SULT1A1, IL2RA, BRD7, VRK1, IL10, F5, IFNG, IL2, LIF, TGFB1, IL1B, PTGS2, NR3C1, MTR, MEFV, APOB, IL5, BRWD1, XDH, IL10RA, NOD2, IL23R, IRF5, MST1, IRGM, IL10RB, ATG16L1, HPGD, TPMT, ADIPOQ, IL21R, ANG, AGER, PDGFB, FGF23, AGT, ANO6, SLC11A1, ALPI |
| Inflammatory disease | PDCD1 |
| Inflammatory myofibroblastic tumor | RANBP2 |
| Inflammatory myopathies | HLA-DQB1, HLA-DRB1, HLA-DQA1 |
| Inflammatory polyarthritis | TNF |
| Inflammatory process of male genital tract | MMP12 |
| Inflammatory response in coronary bypass | MIF |
| Influences germ cell proliferation in spermatogenesis | TRIM27, EME1 |
| Influences sperm morphology | WFS1 |
| Influences spermatogenesis | UBA1 |
| Inguinal cryptorchism | AR |
| Inherited blood coagulation disease | F7, VKORC1 |
| Inherited glycosylphosphatidylinositol deficiencies | PIGA, PIGM, PIGO, PIGV, PIGN, PGAP1, PIGL, PIGW, PIGY, PIGT, PGAP2 |
| inherited metabolic disorder | NDUFS2, LIG1, BCHE, HSD11B2, GPHN, SUOX, UQCRB, FMO3, DDC, TBX19, MMAB, NDUFS1 |
| Inherited thrombophilia | PROC, THBD, FGG, PROS1, FGB, PLG, FGA, HRG, F2 |
| Initial and cyclic follicle recruitment | AMH |
| Insomnia | CLOCK |
| Insulin precocious puberty | SERPINE1 |
| Insulin resistance | SERPINE1, LEPR, APOE, INSR, VDR, ANK1, MTHFR, LMNA, IL6, AR, HSPA1A, FTO, FOXO1A, NOS3, PIK3CB, AKT1, SHBG, CYP17A1, VEGFA, CYP19A1, CRP, TCF7L2, LEP, GHRL, IGF1, IGF2, ZFAND3, STAT3, OGG1, HNF1A, PAFAH1B2, PPARG, APOB, MEF2A, HSP90AA1, TNF, PON1, PLCXD3, ICAM1, HFE, SLC19A1, TLR2, TLR4, NR3C1 |
| Insulinoma | CXCL12, TGFA, BTC, INS |
| Intellectual developmental disorder with autism and speech delay | TBR1 |
| Intellectual developmental disorder with short stature, facial anomalies, and speech defects | FBXL3 |
| Intellectual disability | PAH, ARID1B, DYRK1A, KRAS, CDKL5, EIF4A3, PRSS12, CC2D2A, RPGRIP1L, ACSL4, ARHGEF6, CC2D1A, DRD4, TSC1, GPI, RAI1, CNTNAP2, DMD, WDR62 |
| intermediate coronary syndrome | SOD3, APOA4, AGTR1, EDN1, F7, AGT, SELP, ITIH4, HMGCR, ITGA2 |
| Interstitial lung and liver disease | MARS1 |
| Interstitial lung disease | SFTPD, SFTPB, CXCL10, SFTPC, TLR9, CD28, CCL2, MPO, CCL17, IL4R, AP3B1 |
| Interstitial lung diseases | TNF, IL6, IL10, IFNG, IL2, TGFB1, IL1A, IL4, IL1RN, IL12A |
| Intestinal disease | NOD2, BMPR1A, SLC10A2 |
| Intra-abdominal testes | NR5A1 |
| Intracranial aneurysm | BOLL, TNF, MTHFR, IL6, NOS3, TGFB1, TIMP2, ACE, TGFBR3, TIMP1, EDNRA, MTR, CDKN2A, CBS, CTSS, CTSB, CTSK, MMP14, COL1A2, ENG, PKD2, COL22A1 |
| Intracranial arteriovenous malformations | IL6 |
| Intracranial embolism | KL |
| Intracranial hemorrhage in brain cerebrovascular malformations | IL6 |
| Intracranial thrombosis | MTHFR, F5 |
| intracranial vasospasm | TNC |
| intrahepatic cholangiocarcinoma | SMAD4, MIR200B, BECN1, ARID1A, KRAS, IDH2, BRAF |
| Intrahepatic cholestasis | ABCB4, HSD3B7, ABCB11, ATP8B1 |
| Intrahepatic cholestasis of pregnancy | ABCB4, ATP8B1 |
| Intrauterine growth retardation | SERPINE1, F5, CYP17A1, GSTT1, GSTP1, GSTM1, MMP9, FLT1, IGF1, GH1, CYP1A1, IGF2R, ACP1, MMP2, IGF1R, MTHFR |
| Intravascular coagulation | F2, ADAMTS13, TNF, TFPI, PROC, THBD |
| invasive ductal carcinoma | MAP2K4, NCOA4, FOXC1, SOCS3, MMP13, VEGFC, ADGRB1, ANXA1, RAD50, BRMS1, EBAG9, CRKL, SOCS2, IL13, CCND3, AGER, WIF1, SOCS1, AREG, JUP, HOXB7, NEFL, UBR5, FHIT, DLG1, CSNK1E |
| Invasive lobular carcinoma | STAT5A, CCND1, CTNNA1 |
| Inverted papilloma | CDKN1A |
| Involved during mitosis and meiosis of spermatogenesis | IL1A |
| Involved in acrosome formation and cytoskeletal reorganization during spermiogenesis | TBC1D21 |
| Involved in acrosome/acroplaxome formation and cytoskeletal reorganization during spermiogenesis | TBC1D21 |
| Involved in binding of sperm to the egg zona pellucida | ADAM3A |
| Involved in decapacitation | SPINKL |
| Involved in differentiation and function of spermatozoa | TMEM225 |
| Involved in germ cell removal in cryptorchid testis | PHLDA1, HSF1, HSF2 |
| Involved in impaired sperm quality | ACHE |
| Involved in impaired sperm quality, marker for stress-related infertility | ACHE |
| Involved in mammalian spermiogenesis | NDC1, RAB10, SEPT12 |
| Involved in regulation of human sperm capacitation | PRKCA |
| Involved in sperm capacitation | GPD2, GPD2 |
| Involved in sperm capacitation and acrosome reaction | IQCF1 |
| Involved in sperm fertilization by facilitating sperm-oocyte membrane fusion | ERP29 |
| Involved in sperm physiology | GPR18 |
| Involved in sperm-zona binding or penetration, acrosome reaction | ACRV1 |
| Involved in sperm-zone pellucida interaction | DCXR |
| Involved in spermatogenesis | TRIM28, PRMT5, HDAC1, BRDT |
| Involved in spermatogenesis and may be necessary for normal sperm motility | SPIN1 |
| Involved in spermatogenesis by modifying mitochondrial dynamics and morphology | GGNBP1 |
| Involved in spermatogenesis, Male infertility | PBK |
| Involved in spermatozoal motility since two patients suffering necrospermia possessed spermatozoa deficient in both AC and PCM activities | ADCY1 |
| Involved in spermiogenesis by regulating the formation and maintenance of the flagella in developing spermatids | MARCHF10 |
| Involved in the development of the sperm tail basal body and axoneme | TEKT1 |
| Involved in the extremely complex structural rearrangements occurring in haploid germ cells during spermiogenesis | CABS1 |
| Involved in the redistribution of proteins during spermatogenesis | KIF5C |
| Involved in the regulation of epithelial sodium channels(ENaC) during capacitation and thus contribute to the observed hyperpolarization associated with this process | CFTR |
| Involvement in germ cell transport | DBN1 |
| Iridocyclitis | CTLA4 |
| iron deficiency anemia | TFRC, HP, ITGA2, TNF |
| Iron-refractory iron deficiency anemia | TMPRSS6 |
| Irritable bowel syndrome | TNF, IL6, IL10, IFNG, IL2, IL1A, IL4, IL1RN, OXTR, OXT, IFNA1, CLDN1, HTR3A |
| Ischemia | APOE, MTHFR, IL6, F5, NOS3, IL1B, ACE, IL1A, APOB, CCL2 |
| Isobutyryl-CoA dehydrogenase deficiency | ACAD8 |
| Isolated anhidrosis with normal sweat glands | ITPR2 |
| Isolated clitoromegaly | NR5A1 |
| Isolated congenital nail clubbing | HPGD |
| Isolated follicle-stimulating hormone deficiency | FSHB |
| Isolated FSH deficiency | FSHB |
| Isolated GH deficiency (IGHD) | GH1 |
| Isolated growth hormone deficiency | GHRHR, BTK, GHR |
| Isolated hypogonadotropic hypogonadism | AMH |
| isolated microphthalmia 5 | MFRP |
| Isolated orofacial clefts | MTHFR, FGFR1, GSTT1, TGFB3 |
| Isolated penile hypospadias | AR |
| Isolated TSH deficiency | TSHB |
| Isovaleric acidemia | IVD |
| It is involved in regulating calcium-dependent signal transduction events during meiosis and sperm functional processes | CAPN11 |
| It is required for spermatozoa function and male fertility | ADCY3 |
| It is the principal potassium channel responsible for capacitation-induced hyperpolarization, and membrane hyperpolarization is crucial to the Acrosome reaction | KCNU1 |
| Itai-itai disease | ESR1 |
| IVF implantation | AMH |
| IVF outcome | TNF, IL12A |
| IVIC syndrome | SALL4 |
| Jackson-Weiss syndrome | FGFR1 |
| Jakob-Creutzfeldt disease | ADAM10, PRND, MAPT |
| Jalili syndrome | CNNM4 |
| Jansky-Bielschowsky disease | TPP1 |
| Jaw Abnormalities | PAK1 |
| Jensen syndrome | TIMM8A |
| Jervell and Lange-Nielsen syndrome | KCNQ1, KCNE1 |
| Jervell-Lange Nielsen syndrome | KCNE1 |
| Johanson-Blizzard syndrome | UBR1 |
| Joubert syndrome | OFD1, TCTN2, TCTN3, CEP41, TCTN1, PDE6D, CPLANE1, AHI1, B9D1, CEP120, PIBF1, ARL13B, TTC21B, TMEM107, JBTS23, SUFU, TMEM67, CSPP1, CEP290, ZNF423, TMEM138, ARMC9, KATNIP, KIF7, INPP5E, CEP104, CC2D2A, TMEM237, RPGRIP1L |
| Joubert syndrome nephronophthisis | NPHP1 |
| Junctional epidermolysis bullosa | COL17A1, LAMB3, LAMC2, LAMA3 |
| Juvenile absence epilepsy | EFHC1 |
| Juvenile arthritis | HLA-DPB1, MIF, HLA-DQB1, HLA-DRB1, HLA-DQA1, TNF, IL6, HLA-A, IFNG, IL10, FOXP3, IL1RN, IL1A, IL12A, TGFB1, IL1B, IL2, IL4 |
| Juvenile dermatomyositis | HLA-DQA1 |
| Juvenile endogenous attack-like psychoses | COMT |
| juvenile glaucoma | MYOC |
| Juvenile hemochromatosis | HFE |
| Juvenile idiopathic arthritis | MIF, VDR, FAS, PRF1, IL6 |
| Juvenile multiple sclerosis | HLA-DRB1 |
| Juvenile myelomonocytic leukemia | AKAP12, CBL, JAK3 |
| Juvenile myoclonic epilepsy | EFHC1, GABRD, CILK1, CACNB4, GABRA1 |
| Juvenile oligoarthritis | DDR1 |
| Juvenile polyposis | BMPR1B, BMPR2 |
| Juvenile polyposis syndrome | SMAD4, BMPR1A |
| Juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome | SMAD4 |
| Juvenile primary lateral sclerosis | ALS2 |
| Juvenile rheumatoid arthritis | HLA-DRB1, IL6, THBD, MBL2, SELP, SLC11A1, SLC26A2, PTPN22, SH2D2A, CIITA |
| Kabuki syndrome | KMT2D |
| Kallmann syndrome | PROKR2, FGFR1, KAL1, CHD7, Prok-R2 |
| Kallmann syndrome (KS) | CHD7, KISS1, KISS1R, PROK2, GNRHR, FGF17, FLRT3, INSL3, KAL1, PROK1, SOX10, FGFR1, PROKR2, IL17RD, SPRY4, WDR11, DUSP6, EMX1, KAL2 |
| Kallmann's syndrome (KS) | KAL1 |
| Kallmann syndrome | PROKR2, EMX1, INSL3, WDR11, SOX10 |
| Kaposi sarcoma | KRAS, TP53 |
| Kaposi's sarcoma | FGF3, MYC, BCL2, IL6, TP53 |
| Kartagener Syndrome | DNAI1, DNAH5, DNAH11, MBL2 |
| Kawasaki disease | TNF, NOS2, IL6, IL10, NOS3, IL1B, VEGFA, HMOX1, IL4, IL1RN, FCGR3A, KDR, HMGB1, SELP, HP, ADIPOQ, AGER, HSPA1A, MBL2, CD40 |
| KBG syndrome | ANKRD11 |
| Kearns-Sayre Syndrome | CYTB, ATP8, ND4, MT-CO3, ATP6, ND5, ND4L, ND6 |
| Keipert syndrome | GPC4 |
| Keloids | HLA-DQB1, HLA-DQA1, HLA-C, HLA-B, TGFB1, TGFBR3, TGFB3, HLA-A, TP53 |
| Kennedy's disease | AR |
| Kenny-Caffey syndrome | FAM111A, TBCE |
| Keppen-Lubinsky syndrome | KCNJ6 |
| Keratoconjunctivitis sicca | TNF |
| Keratoconus | IL1B, IL1RN, IL1A, VSX1, KERA, CNTF, FGA |
| Keratosis | VDR, PIK3CA, KRT1, MPO |
| Keratosis follicularis | ANXA1, ATP2A2 |
| Keratosis follicularis spinulosa decalvans | SAT1, MBTPS2 |
| Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | POMP |
| Ketosis | APOE |
| Ketosis-prone diabetes mellitus | PAX4 |
| Keutel syndrome | MGP |
| Kidney angiomyolipomas | IFNG |
| Kidney cancer | PPARGC1A |
| Kidney disease | F7, TNF, ARID1B, LIPC, VPS33B, CTLA4, ALOX5AP |
| Kidney diseases | SPINK1, MMP9, MIF, CYP26B1, HLA-DRB1, SERPINE1, MMP2, MMP12, HNF1A, APOE, AGTR1, ALDH1A2, COMT, VDR, TNF, HLA-B, MTHFR, PPARG, IL6, IL10, ESR1, INSR, PTGDS, F5, NOS3, F10, F3, TGFB1, VEGFA, CRP, IL2, HNF1B, TLR4, PTGS2, NR3C1, HIBADH, IGF2R, EGFR, EPHX2, PON1, PNLDC1, ANXA5, HLA-A, IFNG, CYP11B2, GPX1, CCR5, LEP, NPHP4, GH1, GHRL, ACE, SERPINA3, PON2, HMOX1, IL4, SLC26A8, ICAM1, ABCB1, PLAT, TCF7L2, HFE, CCL5, EDNRA, SLC19A1 |
| Kidney failure | SPP1, AMBP, GFER, DRD1 |
| Kindler syndrome | FERMT1 |
| Kleefstra syndrome | EHMT1, KMT2C |
| Klienfelter syndrome | RXFP2, AR |
| Klienfelters syndrome | AR |
| Klinefelter syndrome | DAZ1, INSL3, F5, USP9Y, AMH, FGFR3, SOX9, RXFP2, MAGEA4, UCHL1 , AR, DLK1, INHA |
| Klinefelter patient | FGFR3 |
| Klinefelter syndrome | AMH, INSL3, DLK1 |
| Klippel-Feil syndrome | GDF3, MYO18B |
| Knee osteoarthritis | HLA-DQB1, TNF, ESR1, IL10, IL1B, PTGS2, IL1A, IL1RN |
| Kniest dysplasia | COL2A1 |
| Knobloch syndrome | COL18A1 |
| Kohlschutter-Tonz syndrome | ROGDI |
| Koolen-De Vries syndrome | KANSL1 |
| Krabbe disease | PSAP, GALC |
| Kufor-Rakeb syndrome | ATP13A2 |
| Kufs disease | CTSF, DNAJC5, CLN6 |
| Kuhnt-Junius degeneration | TLR3, IGFBP2, PDGFRB, CCL2, PDGFB, ELN, HTRA1, CFI |
| L-2-hydroxyglutaric aciduria | L2HGDH |
| L1 syndrome | L1CAM |
| Lack of breast development | LHR |
| Lacrimo-auriculo-dento-digital syndrome | FGFR2, FGFR3, FGF10 |
| Lactic acidosis | PYGL |
| Lacunar infarction | IL6 |
| Lafora disease | EPM2A |
| Lamb-Shaffer syndrome | SOX5 |
| Lambert-Eaton myasthenic syndrome | CACNA1B, CHRM1 |
| Landau-Kleffner syndrome | GRIN2A |
| Langerhans cell histiocytosis | IFNG, BRAF, MAP2K1 |
| large cell carcinoma | STRAP |
| Laron syndrome | GHR |
| Laron-type dwarfism | IGF1 |
| Larsen syndrome | FLNB |
| Laryngeal cancer | CCND1, CCNE1, CCNE2, TP53 |
| Laryngeal squamous cell carcinoma | CDKN1A |
| Laryngo onycho cutaneous syndrome | LAMA3 |
| Larynx cancer | NOD2 |
| Late-onset congenital adrenal hyperplasia | CYP21A2 |
| Late-onset retinal degeneration | C1QTNF5 |
| Late-onset vascular disease | MTRR |
| Late-onset adrenal insufficiency | CYP11A1 |
| Late-onset hypogonadism (LOH) | AR |
| Lateral meningocele syndrome | NOTCH3 |
| Latex-fruit syndrome | HLA-DRA |
| Lathosterolosis | SC5D |
| Lattice corneal dystrophies | TGFBI |
| Laurence-Moon syndrome | PNPLA6 |
| Laurin-Sandrow syndrome | LMBR1 |
| LCHAD deficiency | HADHA |
| Leads to impaired spermatogenesis associated with defects in chromatin condensation and acrosome development | PPP1CC |
| Learning disability | IKBKG |
| Learning disorders | APOE |
| Leber congenital amaurosis | SPATA7, NMNAT1, RPGRIP1, TULP1, CRB1, CEP290, GUCY2D, AIPL1, IMPDH1, RD3, CRX, RDH12, LCA5, RPE65, MYO7A, IQCB1, PRPH2 |
| Leber congenital amaurosis 10 | CEP290 |
| Leber congenital amaurosis 2 | RPE65 |
| Leber congenital amaurosis 7 | CRX |
| Leber hereditary optic atrophy | ND4, MT-CO3, ATP6, CYTB, MT-CO1, ND5, ND4L, ND6, ND1 |
| Leber hereditary optic neuropathy | ND4, MT-ND4, APOA4, MT-ND5, RDH12, EPHX1, MT-ND4L, RPGRIP1, TP53, PARL |
| Leber hereditary optic neuropathy and dystonia | ND6, ND1 |
| Leber vision disorders | ND4 |
| Lecithin:cholesterol acyltransferase deficiency | LCAT |
| Left ventricular hypertrophy | PPARG, SLC22A5 |
| Left ventricular noncompaction | TPM1, MIB1, DTNA, MYBPC3, ACTC1, LDB3, PRDM16 |
| Legg-Calve-Perthes Disease | COL2A1 |
| Legionnaires' disease | ADA, MBL2, TLR5 |
| Legius syndrome | SPRED1 |
| Leigh disease | MT-ND5, NDUFS2, NDUFS4, SURF1, LRPPRC, MT-ND6 |
| Leigh syndrome | COX10, NDUFS3, SDHA, NDUFAF2, NDUFS4, TACO1, NDUFA2, NDUFA12, BCS1L, LRPPRC, NDUFA9, SURF1, NDUFS8, FOXRED1, NDUFA10, NDUFAF6, NDUFS7 |
| Leiomyoma | GSTM1, IFNG, IL1B, TGFB1, MMP9, MMP2, ACE, EGFR, CAV1, CCNG1, PCP4, WNT7A, PTGER3, TSC2, FGF1, LNPEP, BCL2L1, FGF2, FZD2, IGFBP6, HNRNPM, FGF7, PDGFA, WNT5B, PDGFB, PTK2, KAT6B, HMGA2 |
| Leiomyomatosis | COMT, PPARG |
| Leiomyosarcoma | XRN2, MED12 |
| Lennox-Gastaut syndrome | CHD2, MAPK10 |
| Lenz-Majewski syndrome | PTDSS1 |
| LEOPARD syndrome | PTPN11, RAF1, BRAF |
| Lesch-Nyhan syndrome | HPRT1 |
| Lethal congenital contractural syndrome | GLDN, GLE1, ADCY6, MYBPC1, ERBB3, NEK9, PIP5K1C, CNTNAP1 |
| Lethal restrictive dermopathy | ZMPSTE24 |
| Lethal-type popliteal pterygium syndrome | RIPK4 |
| Leucocytospermia | LEP, MMP12 |
| Leucocytospermic seminal plasmas | FN1 |
| Leukemia | MTHFR, ICAM2, BRD7, FGF4, H1-6, RAD51, TAL1, GMNN, ATM, NBN, PTPN11, GFI1, TP53, TFPI, CD28, PDGFRA, BCR, ACSL6, NQO1, ABO, FADD, JAK2 |
| Leukocyte adhesion deficiency | RAC2, ITGB2, FERMT3, SLC35C1 |
| Leukocyte adhesion deficiency 3 | FERMT3 |
| Leukocytospermia | TNF, IL1A, NFE2L2, CXCL8, IL6, MMP12, FN1, ELANE, SOD1, IL2, LEP, TLR2, TLR4, PTGS2, IL12A, SLPI, PCLAF, IL4, IL8, IL12, NRF2, PAF |
| Leukodystrophy | HSPD1, LMNB1 |
| Leukodystrophy and acquired microcephaly with or without dystonia | PLEKHG2 |
| Leukoencephalopathy | CLCN2, RNASET2, EIF2B5, EIF2B2 |
| Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | DARS2 |
| Leukoencephalopathy with dystonia and motor neuropathy | SCP2 |
| Leukoencephalopathy with vanishing white matter | EIF2B3, EIF2B1, EIF2B2, EIF2B5, EIF2B4 |
| Leukoencephalopathy, progressive, with ovarian failure | AARS2 |
| Leukomalacia | IL6 |
| Leukopenia | GSTP1, TPMT, CXCR4 |
| Leukoplakia | NAT2, GSTT1, GSTP1, GSTM1, CYP1A1, TP53, MDM2, XRCC1, ERCC2 |
| Leukospermia | SLPI |
| leukostasis | SERPINF1 |
| Leukotriene C4 synthase deficiency | LTC4S |
| Lewy body dementia | GBA, SNCA, LRRK2, ELK1, NGFR, MAP2, CCR1, CHRNA4, CHRNA7, SNCG, PRKN, KLK6 |
| Lewy body disease | APOE, NOS3, APP |
| Leydig cell development | IL6 |
| Leydig cell dysfunction | TP53, NDRG2, LHCGR, FSHB, MEF2A, INSL3, TGFB1, CYP17A1 |
| Leydig cell function | MEF2A |
| Leydig cell hyperplasia | TGFB1 |
| Leydig cell hypoplasia | LHR |
| Leydig cell tumor | ESR1, PDGFA, PDGFRA, PDGFRB, PDGFB |
| Leydig cell tumors | TP53 |
| Leydig cells is essential to maintain normal spermatogenesis, testosterone production, and required for normal male fertility | AR |
| Leydig cell apoptosis | NDRG2 |
| Leydig cell hyperplasia (LCH) | TGFB1 |
| Leydig cell hypoplasia | LHR |
| Li-Fraumeni syndrome | TP53, MDM2 |
| Lichen planus | CD40 |
| Liddle syndrome | SCNN1G, SCNN1B |
| Limb deficiency defects | NAT2, SERPINE1, TNF, NOS3, GSTM1, GSTT1 |
| Limb ischemia | CSF3, EPO |
| Limb-girdle muscular dystrophy | DNAJB6, LMNA, TOR1AIP1, DES, TCAP, PLEC, BVES, TRAPPC11, CAPN3, SGCB, TRIM32, TNPO3, TTN, CAV3, HNRNPDL, SGCD, POGLUT1, POMGNT1, POMT1, DAG1, FKTN, FKRP, GMPPB, DYSF, LIMS2, SGCA, CRPPA |
| Limb-girdle muscular dystrophy 1C | CAV3 |
| Limb-girdle muscular dystrophy 2B | DYSF |
| Limited scleroderma | JAK2, CAV1, TAP2 |
| Linear nevus sebaceous syndrome | HRAS |
| Lipid metabolism disorder | NPY5R, PPARA, CPT1A, MVK, CPT2, DHCR24 |
| Lipodystrophy | TNF, LMNA, PPARG, CCL2, AGPAT2 |
| Lipoid nephrosis | STAT6 |
| Lipoid proteinosis | ECM1 |
| Lipolysis | USF1 |
| Lipoma | HMGA2 |
| Lipopolysaccharide hyporesponsiveness | TLR4 |
| Lipoprotein glomerulopathy | APOE |
| liposarcoma | FUS |
| Lissencephaly | PAFAH1B1, TUBA1A, KATNB1, DCX, YWHAE, LAMB1, CDK5, ARX, NDE1, RELN, POMT1, POMGNT1 |
| liver benign neoplasm | MAP2K3, TUT4 |
| liver cancer | GPT2, JAK2, GPT |
| Liver disease | HLA-DQB1, TNF, TNFRSF1A, HFE, TGFB1, IFNG, CYP17A1, IL10, SOD2, SERPINA1, MMP2, HLA-DRB1, MTHFR, PON1, PON2, KRT18, THBD, MBL2, PRKCSH, CYP2E1, ALDH2 |
| Localized autosomal recessive hypotrichosis | LPAR6, LIPH, HR, DSG4 |
| Localized mainly in the acrosomal region of the sperm head and in the mid-piece of the flagellum | PFKFB3 |
| Loeys-Dietz syndrome | TGFB2, TGFBR1, TGFBR2, SMAD3 |
| Loeys-Dietz syndrome 5 | TGFB3 |
| Long QT syndrome | ND4, KCNQ1, ATP6, ATP8, KCNJ5, CALM2, KCNH2, CACNA1C, CAV3, ANK2, AKAP9, KCNJ2, KCNE1, SCN4B, SNTA1, SCN5A |
| Long QT syndrome 3 | SCN5A |
| Low fertilization capacity | LHCGR |
| Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis | CLCN5 |
| Low ovarian reserve | INSL3, AMH |
| Low ovarian response | FMR1 |
| Low sperm motility | ND4, NFE2L2, IL2RA, GNA12, SIRT3, CDH18, ALDH1L1, FERMT2, CTNND2, DNMT3A, FANCC, GLI3, PHPT1, HDAC1, APBA1, FAS, MT-ND4, NRF2, SERPINA5, PEX10, PCSK4, PPP1R9A, SNRPN, LDB1 |
| low tension glaucoma | EDN1, OPTN, TNF, TP53, MYOC, CAV2, ADRB1 |
| Low testosterone production | USP26 |
| Lowe syndrome | OCRL |
| Lower implantation | IL6, IL11 |
| Lower sperm capacitation | CFTR |
| Lujan-Fryns syndrome | MED12 |
| Lumbar disc disease | COL1A1 |
| Lumbar vertebral anomalies | SRY |
| lung adenocarcinoma | EHMT2, SNRPE, HOXB7, SNRPB, CBX5, WRAP53, CBX7, ANAPC2, CCND1, CDK6, E2F3, PRAME, MUC4, SERPINA3, PIK3R1, RARB, KRAS |
| Lung adenoma | ANAPC2 |
| lung cancer | CCL22, TNC, KDM4A, ACSL3, KDM4B, HS3ST2, RECQL, SETDB1, XRN2, ERCC6, NOD2, NCOA6, MBL2, NFKBIA, MPO, MBD4 |
| lung carcinoma | CRKL, MUC4, MDC1, STRAP |
| Lung disease | CFTR, TNF, IL10, ACE, MMP9, MMP12, HLA-DQA1, IFNG, IL1B, SOD2, SERPINA1, GSTT1, GSTP1, GSTM1, GC, HMOX1, IL1RN, CAT, DEFB1, SFTPB, SFTPD, SFTPC, IL15, IL13, DEFB4A, MPO, CSF3, NQO1, HLA-DPB1 |
| lung non-small cell carcinoma | KDM3B, TNF, CCND1, AGER, WRAP53, LAMB3, KDM2A, BCL11A, HNRNPA1, PTGES, TLR9, LAMC2, TK1, ARPC5, BAMBI, EGR1, DIABLO, CCNE1, MIR484, L1CAM, FHIT, HNRNPA2B1, PDPK1, RASSF5, MIR223, EPHX1, KDM5A, MIR493, CHI3L1, THBD, MIR377, AKT3, CDKN1B, CDK6, ITGB3, LTA, KAT2A, CDKN2B, CDH13, SPP1, PRKCB, RARB, RXRG, EPAS1, SFTPD, ESR1, MIR29B1, RELA, MIR381, HDAC3, TYMP, E2F3, IRF1, CASP7, CDA, MANF, CBL, NAT1, CMPK1, NQO1, AMD1, TENT5A, SMARCA4 |
| lung small cell carcinoma | SKP2, PTK2, CDKN1B, MAX, LAMB3, LAMA3, LAMC2, CCND1, RARB, PIK3R1 |
| lung squamous cell carcinoma | LAMC2, CCND1, E2F3, ARPC5, SFTPB |
| Lupus nephritis | SERPINE1, IL18, VCAM1, TNF, CCL2, TNFRSF11B, TLR9, APOC3, CFB, CTLA4, SNRPE, FCGR2A, CFH, AGER, MBL2, ITGAM, MPO |
| Luteal phase defect | ESR1, LHB, SHBG, INHBA, PRL, PGR |
| luteal phase defect (LPD) | PGR |
| Luteinized unruptured follicle syndrome | LHB |
| Luteinizing hormone resistance | LHCGR |
| Lymphangioleiomyomatosis | TSC1, TSC2, ESR1, SRF |
| Lymphangioma | FLT4 |
| Lymphedema | PTPN11, KDR, ACTA2, FOXC2, GJC2 |
| Lymphedema-distichiasis syndrome | FOXC2 |
| Lymphocytic leukemia | ENG, BCL2L1, FCGR2A, RUNX1, FCGR2B |
| Lymphocytosis Lymphoproliferative Disorders | IL10 |
| Lymphohistiocytosis | PRF1 |
| Lymphoma | ATM, PSMB9, RELA, MAD1L1 |
| Lymphopenia | TNF, FCGR2A |
| Lymphoplasmacytic lymphoma | PAX5 |
| Lymphoproliferative disorders | HLA-B, TNF, IL6, F5, IFNG, HLA-A, TGFB1, IL2, IL1A, TP53, GATA1, ABCB1, TYK2, BAK1 |
| Lymphoproliferative syndrome | TAP2, SLC11A1 |
| Lymphoproliferative syndrome 1 | ITK |
| Lynch syndrome | TP53, MLH1, MSH2, MSH6, SMAD3, TGFBR1, SMAD4, PMS1, RNASEL, SMAD2 |
| Lysinuric protein intolerance | SLC7A7 |
| Lysosomal acid lipase deficiency | LIPA |
| Lysosomal cysteine protease deficiencies | CTSK, CTSC |
| Lysosomal storage disease | AGA, CTSA |
| Lysyl hydroxylase 3 deficiency | PLOD3 |
| Machado-Joseph disease | AR, ATXN3, S100B, BECN1 |
| Macro-orchidism with or without hypogonadism | APOA1 |
| Macrocephaly macrosomia facial dysmorphism syndrome | RNF135 |
| Macrocephaly, alopecia, cutis laxa, and scoliosis | RIN2 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | HERC1 |
| Macrosomia | WT1 |
| Macrothrombocytopenia | GATA1, VWF, GP1BB, ITGA2B, GP9, DIAPH1, ITGB3, ACTN1, PRKACG, GFI1B, MYH9, GP1BA, NBEAL2 |
| Macrozoospermia | AURKC, DPY19L2 |
| Macular corneal dystrophy | CHST6 |
| Macular degeneration | ABCA1, MMP9, NAT2, MGST1, A2M, ND4, HLA-DQB1, CD46, APOE, HLA-DRB1, CST3, HLA-B, NOS2, TNF, PON1, IL6, ESR1, HLA-A, IL1B, VEGFA, CRP, HFE, IL10, CYP1A2, CLU, SOD2, SERPINA3, IL1A, GPX1, GSTT1, GSTP1, GSTM1, ACE, CYP1A1, KDR, CXCL8, TLR4, PARP1, CAT, C3, XRCC1, APP, AHR, ERCC2, TRA2B, HSPA8, EFEMP1, CDKN1A, MIR23A, CDKN1B, ERCC6, ELN, CCL2, SERPING1, SERPINF1, CFI, CACNG3, CFH, CFB, CX3CR1, C2, PRPH2, ABCA4, ADIPOR1, PPARGC1A, NQO1 |
| Macular edema | IL6 |
| macular retinal edema | APOH, CCL2, FGF2, EPO, SERPINF1 |
| Maculopathy | ABCB1 |
| Magnesium deficiency | HNF1B |
| Maintain normal spermatogenesis and testosterone production, and ensure normal male fertility | AR |
| Maintaining the stability of the sperm head-tail junction | SPATC1L |
| Maintanence of acrosome | KNL1 |
| Maintanence of male germ cells | KDM3A, JMJD1C |
| Maintanence of sperm motility | AQP7 |
| Maintenance of follicle viability | PACAP |
| Major depressive disorder | APOE, ADCYAP1, COMT, CLOCK, MTHFR, CCND2, GDNF, ESR1, CREB1, SLC18A1, AKT1, IL10, BMP7, GSK3B, ABCB1, HTR2A, FKBP5, TPH2, CHRM2, NTRK2, GATA1, DISC1, EIF4B, IL3, PAWR, CALM2, SYN1, DUSP1, FOXP2, HSPA1A, MC1R, CNTNAP2 |
| Maldescended testes | LHCGR, AMH, INSL3, RXFP2 |
| Male cell differentiation | SPEF2 |
| Male erectile capability | GH1, GH |
| Male factor infertility | YBX2, PLA2, SNRPN, PLAGL1, H19, FAS, IFNG, TARDBP, SPO11, INHBA, ACT, GSTM1, GSTP1, CYP1A1, STAT4, REC8, IL12A, CASP3, IGF2, PI3K, TYK 2, STAT1, NR5A1, BIRC5, AHRR, IFNA1, IGF1R, IGF2R, MEST, PEG3, MDR1, DYNLT1, KCNQ1OT1, CYCS, CA125, ST6GALNAC6, MSMB, UTP14C, DPP8, DEFB110, TCTE1, ESR1, LHCGR, FSHB, CYP19A1, ERCC2, FSHR, HSPA2, NRIP1, IL6, ICAM1, FASLG, gp130, GAPDH, GC, FN1, DAZ1, DAO, ANXA5, COL1A1, CFTR, AR, PARK7, NANOS3, IL1B, FAM12B, FKBP6, NAT2, PKD1, ATP8, GDAP1L1, GNAS, GNA12, GJA1, GSTT1, DDX25, GPX1, HLA-DRB1, MTRR, DYNC2H1, IL6ST, HLA-DQB1, DMPK, B2M, NDRG3, NECTIN2, NFE2L2, MTHFR, MEFV, LIPE, LEPR, NGF, APOE, INHA, IL6R, HLA-B, FOXO1, ALDH1A2, COMT, CLOCK, PACRG, VDR, TNF, BDNF, DPP6, FGFR2, FST, EGFR, HSD17B4, EDNRA, CYP11B1, PSAT1, KRT10, SLC6A8, STRC, DYNC1H1, INSR, Atp6v0a2, USP9Y, DAZ4, FMR1, NOS2, AURKC, ARNT2, CGB3, DDX3Y, DAZ2, CASP4, TNFRSF1B, BAG6, IL10, IL2RA, L1RE1, ASZ1, HLA-DPB1, HLA-A, CIB1, CYP450, APOA1, HSP90AA2P, EZH2, ADCY2, AMHR2, FGFR1, CSNK2B, DECR1, ITGA6, MAN1B1, FKBP4, |
| Male factor infertility | AHR, CLCA4 |
| Male fertility | TCTE1, ST6GALNAC6, MSMB, CLPSL2, TAL1, Defb41, TSSK6, WIP1, CA 125, UTP14c |
| Male fertility and sperm-egg adhesion | EQTN |
| Male fertility, Wolfram syndrome | WFS1 |
| Male genital and reproductive abnormalities | ESR1 |
| Male germ cell differentiation | BRDT |
| Male germ cell differentiation and survival | AFF4 |
| Male gonadal dysfunction | INHBA, INHB |
| Male hypogonadism | FSHB, LHB, LHR |
| Male idiopathic infertility | ERCC2 |
| Male immune infertility | ICAM1, IL6 |
| Male inferility | CASP3 |
| Male infertililty | MAPKAPK2 |
| Male infertility | SLIRP, ACTL7A, MIR147B, MIR665, MIR216B, MIR935, MIR708, MIR543, MIR889, MIR365A, MIR1224, MIR1468, MIR1246, MIR1298, MIR1185-1, MIR1299, MIR1295A, MIR1185-2, MIR1285-1, MIR1911, miR-1302, MIR1323, MIR1283-1, MIR1233-2, MIR3180-1, MIR3158-1, MIR3925, MIR3940, MIR3663, MIR3150B, MIR548AV, ARPC2, ADGRG2, PSME3, MIR6507, MIR6715B, MIR6718, MIR7153, MIR7154, MIR7161, MIR7974, MIR7151, MIR7159, TCIRG1, CETN1, ADCY1, OGA, PLK4, STAG3, CFTR, hCG, GADD45G, IFT27, SOX30, ADAMTS5, CHEK1, CHEK2, SLC6A14, PARK7, ADA1, CATSPER2, GPR62, CLU, RXFP2, SPACA7, TDRD9, CCR5, MSI2, SPACA3, CNR2, HMGB4, COL1A1, ICA1L, OSR1, GSH, ADAD1, ADM, PACRG, PRSS37, PRSS58, CPN1, ASZ1, CREM, CTCFL, SUN5, PARP1, PSMA8, CSF-1, PIWIL4, WDR66, CFAP251, EME1, CST3, GPAT2, CTSD, IGSF11, FAM71B, CYP1A1, CYP1B1, Hsd17b4, CYP2B6, LCN6, CYP11A1, CYP17A1, ADAM3A, CYP19A1, RHOXF1, H2BFWT, CYP24A1, PATE1, DAO, FAM71D, STRC, DAXX, DAZ1, DAZL, DBN1, ZNF676, DCN, ACE, WBP2NL, DDX5, SPATA5, NADPH, CRISP1, DCP2, GALNTL5, ALF, DMRT1, DNAH5, EEF1A2, EGF, hPL, E |
| Male infertility and meiotic arrest of mouse spermatocytes | EIF4G3 |
| Male infertility because of structural head abnormalities in residual epididymal sperm | STYX |
| Male infertility due to defects in sperm morphogenesis | NPHP1 |
| Male infertility due to meiotic arrest | STAG3 |
| Male infertility with non-obstructive azoospermia | SEPT12 |
| Male infertility with sperm fibrous sheath dysplasia | AKAP3, AKAP4 |
| Male infertility with varicocele | POLQ, GLB1, MAN2B1, LH-RH |
| Male infertility, Embryo quality | MIR4734, RAP1GAP2, ALOX5AP, BTBD17, NDUFS6, NDUFS8, OGFOD2, BHLHE40 |
| Male infertility, impaired spermatogenesis (non-obstructive azoospermia) | ACE2 |
| Male infertility, oligoasthenoteratozoospermia | MCT2 |
| Male infertility, ovarian tumorigenesis | MPG |
| Male infertility, Spermatogenetic defects | LBX2 |
| Male infertility | POLG |
| Male infertiltiy | NGFB |
| Male meiotic failure | RNF212 |
| Male mutants are sterile and show reduced sperm motility and epididymal sperm counts | NPHP4 |
| Male pseudohermaphroditism | MIF, LHCGR, FSHB, AR, LHB, HSD3B1, AKR1C3, HSD17B1, HSD3B2, SRD5A2, HSD17B3, LH |
| Male pseudohermaphroditism (MPH) | AKR1C3 |
| Male pseudohermaphroditism without salt loss | HSD3B1 |
| Male pseudohermaphrotidism | LHR |
| Male reproduction | MEF2A |
| Male reproductive failures | INHBA |
| Male reproductive physiology | FSHR |
| Male sex reversal | NR5A1 |
| Male sexual development | SRY, AR, LHB, WNT5A |
| Male sexual differentiation | SRY |
| Male sexual maturation and fertility | LH |
| Male sterility | PUM2, SMC1B, XKR8, NDRG2 |
| Male subfertility | TNF, IL6, IFNG, FOXA3, FLACC1, TTLL5, SMC1B, MLPH, KCNJ5, MAPK8IP3, PRRC2A, SAA1, UBE2G2, INHBA, H2afb1, IL11, IL10, SERPINC1, GAA, CXCL8, INF, IL12A, TG4, CASP6, INHBB, PCLAF, CATSPER1, MIR146A, MIR155, CRISP3, CMTM2, FN1, ALOX15, AMH, GH, SPATA46, ANXA2, IL8, IL12, AR, miR-155, ?1 -antitrypsin, PAF |
| Male fertility | DPP8 |
| Male infertility | DROSHA, HLA-B, IFNAR2, AR, MAT, MIR15A, SPAG2, BRCA2, XPA |
| Male pseudohermaphroditism | LH/CGR, LHCGR, MAPK14, CYP17A1, HSD17B2, HSD17B3, HSD3B1, LHR |
| Malfunction of follicular development | AMHR2 |
| Malfunction of oocytes | LHCGR |
| Malignant cystosarcoma phyllodes and soft tissue sarcoma | TP53 |
| Malignant fibroxanthoma | PPARGC1A |
| Malignant glioma | E2F3, NDRG4, ASPM, PIK3R3, KDM5B, EFEMP1, CDKN1A, DCX, SETDB1, CNTN2, PDGFB, CAMKK2, CAMK2A, SH3GL1, PDAP1, HELLS, CDK6, BCAN, HDAC3, AKT2, KRAS, CCND1, LTA, SOX6, ENTPD2, EPO, TNF, TP53, MAP2K1, FLT3LG, EPOR, PDGFA, SLC44A1, CHAF1A, NF1, NADSYN1, ATRX, CYP2E1 |
| Malignant melanoma | ICAM1, PTEN, TP53, CDKN2A |
| Malignant mesothelioma | SOD2, NF2, TP53, IGF1R, IGF1, CDKN2A |
| Malignant migrating partial seizures in infancy | SCN1A, SLC12A5, KCNT1, TBC1D24 |
| Malignant myeloid disorders | TP53 |
| Malignant paraganglioma | SDHB, MAX, SDHD, TMEM127, FH, EPAS1, SDHC, RET, VHL, NF1 |
| Malignant peripheral nerve sheath tumor | KDM4B |
| Malignant pleural mesothelioma | PDGFB, CDKN2B, PDGFA, TP53 |
| Malonyl-CoA decarboxylase deficiency | MLYCD |
| Malouf syndrome | LMNA |
| Mammalian microsatellite instability | MLH3 |
| Manchette-associated protein essential for spermiogenesis | HOOK1, RIMBP3 |
| Mandibuloacral dysplasia | LMNA, ZMPSTE24 |
| Mandibulofacial dysostosis with alopecia | EDNRA |
| Mandibulofacial dysostosis with microcephaly | EFTUD2 |
| Mandibulofacial dysostosis, Guion-Almeida type | EFTUD2 |
| Manic depression | ABCB1 |
| Manitoba oculotrichoanal syndrome | FREM1 |
| Mannose-binding lectin pathway component defects | MBL2, MASP2 |
| Mantle cell lymphoma | TP53, CDKN2A, CCND1, PRAME, CD79B, CCDC50, BTK, TNFRSF10A |
| Maple syrup urine disease | DLD, PEX10, BCKDHB, PPM1K, BCKDHA |
| Marfan syndrome | ACE, FBN1, MMP14, TGFBR2 |
| Marie-Unna hereditary hypotrichosis | HR |
| Marinesco-Sjogren syndrome | SIL1 |
| Marker for stress-related infertility | ACHE |
| Marshall syndrome | COL11A1 |
| Marshall-Smith syndrome | NFIX |
| Martsolf syndrome | RAB3GAP2 |
| MASA syndrome | L1CAM |
| MASS phenotype | FBN1 |
| Mast cell disease | KIT |
| Mastocytosis | KIT, IL5RA, IL13 |
| Maturation arrest | DAZ1, NOS2, DDX3Y, AMH, DAZL, VCY2, CDY2A, HSFY1, DDX4, LHB, TERT, PMS2, NR5A1, FSHB, AR, F2R, MCL1, MLH1, ZMYND15, MLH3, KDM5C, RBMX2, TAF4B, FASLG, ACR, ESR1, LAMB1, PGR, MND1, SPATA22, GAPDHS, CD24, SYCP3, GH1, BPY2, PNLDC1, MIR122, MIR34C, MIR449A, IGF1, A2M, HSPA1B, BPY2-1, AIF1, TEX14, BMP4, KDM5C2 |
| Maturation arrest (MA) | GAPDHS, ACR, PGR, MND1, SPATA22 |
| Maturation arrest at the spermatid stage | LH, FSHB |
| Maturation arrest defects | CD24 |
| Maturation arrest of spermatogenesis | GH |
| Maturation during mouse spermatogenesis | PNLDC1 |
| Maturation failure | MIR449A |
| Maturation of spermatozoa | A2M, IGF1 |
| Maturational arrest | HSPA1B |
| Maturity onset diabetes of the young | HNF1A, HNF1B, PDX1, PAX4, NEUROD1, KLF11, HNF4A, APPL1, GCK, INS, BLK |
| maxillary sinus squamous cell carcinoma | CDKN1A |
| May act to control the gene activity during spermatogenesis | ZNF318 |
| May affect human sperm intracellular signalling pathways and capacitation | HSPA5, HSPD1 |
| May be a regulator of meiosis during spermatogenesis | MOS |
| May be a useful marker for the functional assessment of acrosomal status in human sperm | VAMP2 |
| May be associated with sperm maturation | SLC1A1 |
| May be associated with spermiogenesis | ADCYAP1 |
| May be crucial for spermatogenesis | MTA1 |
| May be implicated in X-linked oligozoospermia | TAF7L |
| May be important for fertilization | LYZL4 |
| May be important for survival of pachytene spermatocytes | GOLGA3 |
| May be important in spermatogenic cells during early postnatal development | MAPK8IP3 |
| May be involved in acrosome formation during spermiogenesis | STX1A, SPATA32 |
| May be involved in acrosome assembly or function | DKKL1 |
| May be involved in membrane trafficking and/or acrosomal shaping during spermiogenesis | IGF2R |
| May be involved in nuclear envelope proteins reconstitution and nuclear migration occurring during the process of spermatocyte division | SUN5 |
| May be involved in regulation of spermatogenesis and sperm maturation | MLNR |
| May be involved in RNA processing, such as RNA splicing or RNA export which are events necessary for normal spermatogenesis | RBMY1A1 |
| May be involved in some events of spermatozoa differentiation and, eventually, in the fertilization process | PRKCA |
| May be involved in sperm-zona binding or penetration, Acrosome reaction | ACRV1 |
| May be involved in the process of spermatogenesis or sperm maturation | CFTR |
| May cause a reduction in mitotic activity and an increase in apoptosis of fetal Sertoli cells in hgn/hgn testes | SPAG5 |
| May cause delay in germ cell differentiation | CELF1 |
| May compromise male fertility | FKBP1A, RYR3 |
| May contribute to occurrence and development of teratozoospermia | PSME4, RACGAP1 |
| May function in the meiotic differentiation of spermatocytes into spermatids | UCHL3 |
| May function in the very late stages of spermiogenesis | MEA1 |
| May have a role in fertilization | Hoxb2 |
| May have a role in regulating sperm acrosome reaction | CD46 |
| May have a role in sex chromosome inactivation during the meiotic phase of spermatogenesis, and in the intramanchette transport during spermiogenesis | RANBP17 |
| May have a role in sperm cell function especially in capacitation and/or acrosome reaction | MYC |
| May have a role in spermatogenesis, particularly at stages of meiosis and/or early spermiogenesis | TESK1 |
| May have important effects on estrogen production, testis development, spermatogenesis, and testicular carcinogenesis | NR5A2 |
| May influence the development of spermatogenic cells in response to steroid and pituitary hormones | NR0B1 |
| May influence transcriptional regulation during spermatogenesis | SMYD3 |
| May participate in the apoptosis of spermatogenic cells and the pathogenesis of cryptorchidism | Syce3 |
| May participate in the spermatogenesis via regulating the apoptosis of spermatogenic cells in mice | H2al2a |
| May play a crucial role in spermiogenesis | Tex1 |
| May play a role in sperm- egg fusion | CMTM2 |
| May play a role in spermatogenesis | CMTM2 |
| May play a role during male gamete differentiation | IL23A |
| May play a role during the development of sperm cells | NFKB1 |
| May play a role in during acrosome formation and/or acrosomal exocytosis | DNM2 |
| May play a role in GABA triggering of acrosome reaction | GABBR2 |
| May play a role in sperm maturation in the epididymus | CWH43 |
| May play a role in spermatogenesis | PCNX1, 4930467E23Rik, Spdya, CADM1 |
| May play a role in stimulating transcription involved in testicular development and/or spermatogenesis | PHF7 |
| May play a role in transcriptional regulation during meiosis and the early haploid phase of spermatogenesis | NR6A1 |
| May play a specific role during meiosis in human testes | HSPA2 |
| May play a vital role in sperm maturation during the epididymal transit, particularly, in the sperm/organelle membrane | ERP29 |
| May play an important role in mouse meiotic divisions of spermatocytes | Sun5 |
| May play an important role in spermatogenesis and/or meiosis | DUSP4 |
| May play an important role in testicular development/spermatogenesis | LIMS1 |
| May play definite roles regulating differentiation of germ cells during spermatogenesis, particularly during meiosis and spermiogenesis | DRC7 |
| May play important role in spermatogenesis | PPP2CB, PPP1CC |
| May play important roles in mouse spermatogenesis and sex maturation | Cst13 |
| May reduce testicular damage induced by cryptorchidism | CIRBP, FAS |
| May regulate spermatogenesis | EGR4 |
| May regulate steroidogenesis and spermatogenesis | SOX13, SOX5, SOX9 |
| May regulate testicular actin cytoskeleton dynamics and play a role in acrosome generation and spermatid nuclear shaping | PFN4 |
| May serve to target this important signaling molecule near the nucleus of developing spermatids in order to control the cellular rearrangements of spermiogenesis | PPP1R42 |
| May-Hegglin anomaly | MYH9 |
| Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome | AMH |
| MCAD deficiency | ACADM |
| McKusick-Kaufman syndrome | MKKS |
| Meacham syndrome | WT1 |
| Meckel syndrome | TCTN2, B9D1, KIF14, TMEM107, TMEM67, CEP290, NPHP3, CC2D2A, B9D2, RPGRIP1L |
| Meckel syndrome 3 | TMEM67 |
| Meckel syndrome 4 | CEP290 |
| MECP2-related severe neonatal encephalopathy | MECP2 |
| Mediates transcriptional silencing during spermatogenesis via histone ubiquitination | UBR2 |
| Mediates ubiquitination during spermiogenesis | CUL3 |
| MEDNIK syndrome | AP1S1 |
| Medullary cystic kidney disease | MUC1, UMOD |
| Medullary thyroid cancer | KRAS, RET, HRAS |
| Medulloblastoma | OTX2, NF2, MYC, TP53, TERT, MDM2, SMO, AXIN1, MEN1, APC, APC2, SUFU, AXIN2, PTCH1, CDK6, KDM4B, KDM4C, PDGFRA, TSC2 |
| megakaryocytic leukemia | GFI1B, PRAME, ABCG2, JAK3, MRTFA |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | PIK3CA |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | CCND2, AKT3, PIK3R2 |
| Megaloblastic anemia | AMN, TCN2, SLC19A2 |
| Megaloencephalic leukoencephalopathy with subcortical cysts | MLC1 |
| MEHMO syndrome | EIF2S3 |
| Meier-Gorlin syndrome | GMNN, ORC1, CDC45, CDC6, ORC4 |
| Meiotic arrest | SEPTIN12, TEX11, SPATA17, LMTK2, PARP2, UBR2, LRWD1, SEPT12, MEI1 |
| Meiotic arrest (MA) | LRWD1 |
| Meiotic arrest in spermatocytes | EZH1, EZH2 |
| Melanoma | ALS2CR12, TUSC1, ATRN, MAGEA1, BRAF, MITF, TP53, EHMT2, ATRX, ESR1, PPARGC1A, GGT1, TERC, RAP1GAP, BCL2L1, SETDB1, CAV1, TYR, LTA, CDKN1A, ELN, PRAME, CHI3L1, SPP1, ASS1, AGER, CD40, NFKBIA, CTLA4, ERCC5, MC1R |
| MELAS Syndrome | TRNL1, ND5, ND6, ND1, MT-ND1, MT-ND5 |
| Membranoproliferative glomerulonephritis | DGKE, CFH, CFHR5 |
| Memory disorders | COMT, APOE |
| MEND syndrome | EBP |
| Meniere disease | AQP4, HSPA1A, PARP1, HLA-DQB1, HLA-DRB1 |
| Meniere's disease | HSPA1A, PTPN22 |
| Meningeal neoplasms | ICAM2, TICAM1 |
| Meningioma | ZP1, NF2, AKT1, CDKN2A, KLF4, SMARCE1, CDKN2B, SMARCB1, SMO, SUFU, TRAF7, EPB41L3, MN1 |
| Meningomyelocele Spinal Dysraphism | BRCA1 |
| Menkes disease | LOX, ATP7A |
| Menkes syndrome | ATP7A |
| Menstrual disorders | ESR1, LHB, PGR |
| Mental depression | SNCA, BECN1, GATA2, MED12, NPY, GNB3, TPH1, CRHBP, GABRA5, HTR3B, NGFR, DRD2, SLC6A4 |
| Mental disorder | COMT, BDNF, MTHFR, FMR1, SLC6A8, CYP1A2, SHH, CLDN11, CYP1A1, TP53, TLR4, CYP1B1, CBS, RFX2 |
| Mental retardation | GSTM1, COMT, POU1F1, RAB3A, FMR1, SLC6A8, TP53, CBS, CTNNB1, DYNC1H1, TBL1XR1, CTCF, TUSC3, MAN1B1, RBMX, DPP6, GSTM3 |
| Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations | MEF2C |
| Merkel cell carcinoma | TP53, HRAS |
| Merosin-deficient congenital muscular dystrophy | LAMA2 |
| Mesenteric vascular occlusion | MTHFR, F5 |
| Mesothelioma | NAT2, OGG1, ERCC2, XRCC1, WT1 |
| Metabolic diseases | LEPR, MTHFR |
| Metabolic syndrome | IL6R, SERPINE1, MMP12, AGTR1, ABCA1, ADCYAP1, VDR, LEPR, LMNA, TNF, MTHFR, PLIN, NOS3, APOE, PDZK1, IL6, FTO, PPARG, F3, CLOCK, ESR1, NPAS2, AR, ANXA5, VEGFA, IL1B, ESR2, CRP, PON1, NR1H3, IL1A, IL10, HMOX1, TCF7L2, CYP11B2, ACE, LEP, PTGS2, NR3C1, IL18, TPM1, GHRL, GPX1, USF1, TLR4, PTGS1, APOB, IL6ST, C3, WFS1, JMJD1C, HTR2A |
| Metabolism disorders | TGFB1 |
| Metachondromatosis | PTPN11 |
| Metachromatic leukodystrophy | ARSA, PSAP, MAL |
| metal metabolism disorder | TRPM6 |
| Metaphyseal dysplasias | MMP9, SBDS, PTH1R, MMP13 |
| Metatropic dysplasia | TRPV4 |
| Methacrylic aciduria | HIBCH |
| Methemoglobinemia | CYB5A, CYB5R3 |
| Methylmalonate semialdehyde dehydrogenase deficiency | ALDH6A1 |
| Methylmalonic acidemia and homocysteinemia, cblX type | HCFC1 |
| Methylmalonic aciduria | MCEE, MMAB, MMAA |
| Methylmalonic aciduria and homocystinuria | MMADHC, MMACHC, ABCD4 |
| Mevalonate kinase deficiency | MVK |
| Mevalonic aciduria | TNF |
| MICPCH syndrome | CASK |
| Microalbuminuria | IGF1 |
| Microcephalic osteodysplastic primordial dwarfism type II | PCNT |
| Microcephalic osteodysplastic primordial dwarfism, type II | PCNT |
| Microcephaly | ASPM, NSD1, CDK5RAP2, SLC25A19, MCPH1 |
| Microcephaly syndrome | MSMO1, RTTN, IER3IP1, QARS1, DONSON |
| Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | KIF11 |
| Microcephaly, Amish type | SLC25A19 |
| Microcephaly, short stature, and impaired glucose metabolism | PPP1R15B, TRMT10A |
| Microcephaly-capillary malformation syndrome | STAMBP |
| Microhydranencephaly | NDE1 |
| Micropenis | AR, NR5A1, SRD5A2, AHR, CYP11A1 |
| Microphallus | SRY |
| Microphthalmia | BMP4, VAX1, OTX2, SHH, SOX2, MFRP, ALDH1A3, ABCB6, RAX, GDF3, RBP4, STRA6, TENM3, HCCS, LRP5 |
| Microphthalmia with limb anomalies | SMOC1 |
| Microphthalmia with linear skin defects syndrome | HCCS, COX7B, NDUFB11 |
| Microphthalmia, syndromic | HCCS, RARB, BCOR, HMGB3, MAB21L2, NAA10, STRA6 |
| Microscopic polyangiitis | HLA-DRB1 |
| Microtia hearing impairment and cleft palate | HOXA2 |
| Microvascular angina | MTHFR, ACE |
| Microvascular complications of diabetes | PON1, IL1RN, HFE |
| Middle lobe syndrome | SALL1 |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | AMMECR1 |
| Migraine | TRPV1, CALCA, CACNA1A |
| Migraine disorder | INSR, AR, PGR, IL1A, GNAS, MTHFD1, EDNRA, MTR, MTHFR, AGTR1, COMT, SERPINE1, NOS2, STX1A, TRPM8, AQP4, NOS3, IL6, FSHR, ESR1, IL1B, ESR2, CYP19A1, IL10, IL4, ACE, ICAM1, GC, NRIP1, TNF |
| migraine with aura | CACNA1A, TRPV3, DBH, ATP1A2, DRD2 |
| migraine without aura | ENO2, S100B, TNF, LDLR |
| Mild androgen insensitivity syndrome (MAIS) | AR |
| Mild chondrodysplasia | COL1A1 |
| Mild clitoral hypertrophy | HSD17B3 |
| Mild hirsutism | CYP11B1 |
| Minimal change nephrotic syndrome | IL4 |
| Miscarriage | TNF, IL6, IL10, GSTT1, GSTP1, GSTM1, CYP1A1, HLA-DRB1, CD25, F5, SERPINE1, FOXP3, PPARG, ESR1, NPAS2, PGR, CYP19A1, HLA-G, AMH |
| Mismatch repair cancer syndrome | MLH1 |
| Mismatch repair deficiency | MLH1, MLH3, PMS2, EPCAM, MSH6 |
| Mitchell-Riley syndrome | RFX6 |
| Mitochondrial complex I deficiency | ND5, TIMMDC1, NDUFB9, NUBPL, NDUFAF2, NDUFS6, TMEM126B, NDUFAF1, NDUFAF5, NDUFS4, ACAD9, NDUFS2, NDUFA1, NDUFS1, NDUFA11, NDUFV2, NDUFAF3, NDUFS8, FOXRED1, ND4L, ND6, NDUFAF6, NDUFS7, ND1 |
| Mitochondrial complex II deficiency | SDHD, SDHAF1 |
| Mitochondrial complex III deficiency | LYRM7, UQCRB, UQCRC2, BCS1L, UQCRQ, UQCC2, CYC1, TTC19 |
| Mitochondrial diseases | TRNL1, NDUFA13, NDUFS3, POLG, ND4, SDHA, CYTB, ATP5A1, COX10 |
| Mitochondrial DNA depletion syndrome | SLC25A4, SUCLA2, SUCLG1, RRM2B, MGME1, FBXL4, OPA1, DGUOK, TYMP, TK2, TFAM, MPV17, AGK |
| Mitochondrial encephalomyopathy | TYMP |
| mitochondrial metabolism disease | MCCC2, HADHB, DGUOK |
| mitochondrial myopathy | EYA1, SLC25A4 |
| Mitochondrial myopathy with lactic acidosis | PNPLA8 |
| Mitochondrial neurogastrointestinal encephalomyopathy | RRM2B, TYMP |
| Mitochondrial phosphate carrier deficiency | SLC25A3 |
| Mitochondrial pyruvate carrier deficiency | MPC1 |
| Mitochondrial trifunctional protein deficiency | HADHB, HADHA |
| Mitotic phase of spermatogenesis | GMNN |
| Mitral valve prolapse | DCHS1, DES, FBN1, AGT, TSHR |
| Mixed 46,XY gonadal dysgenesis | SRY |
| Mixed atrophy | PTGS2, LHB |
| Mixed atrophy or severe atrophy | LH |
| Mixed connective tissue disease | TNF, SNRPC, FBN1, SNRPB |
| Mixed gonadal dysgenesis | AR |
| Mixed gonadal dysgenesis (MGD) | SRY |
| Miyoshi myopathy | ANO5, DYSF |
| Moderate oligoasthenoteratozoospermia | MIR34C |
| Modulates sperm maturation | LCN2 |
| Modulates sperm motility | CRISP1 |
| Modulates the acrosomal exocytosis during sperm capacitation | Spink1 |
| Modulates the processes of fertilization and early embryonic development in vivo | NLGN1 |
| Mohr-Tranebjaerg syndrome | TIMM8A |
| Molybdenum cofactor deficiency | MOCS2, GPHN |
| Molybdenum cofactor deficiency type B | MOCS2 |
| Monilethrix | KRT81, KRT83, KRT86 |
| Monorchidism | AMH, FSHB |
| Mood disorder | RARA, AVPR1B |
| Mood disorders | COMT, BDNF, TNF, IFNG, APOE, ACE, ABCB1, WFS1, BZRP, CREB1, IL6, ESR1, IL1B, IL10, IL1A, IL1RN, NR3C1, NTRK3 |
| morbid obesity | CCK, LPIN1, CPE, ACSS2, CYP2E1, AGER, BBS4, MCHR1, CTNNBL1, NTRK2 |
| Morbid obesity and spermatogenic failure | CEP19 |
| Morphological abnormalities of the sperm flagellum (MMAF) | TTC29 |
| Morphologically abnormal spermatozoa | NADPH, DECR1 |
| Morris syndrome | AR |
| Mosaic variegated aneuploidy syndrome | CEP57, BUB1B, TRIP13 |
| Motor neuron disease | NAT2, GSTT1, GSTP1, GSTM1, HTRA2 |
| Motor peripheral neuropathy | EGR2 |
| Mouse spermiogenesis | IQCG, LMNA |
| Mouse subfertility | VAX1 |
| Movement disorders | DPP6, SOD2 |
| Mowat-Wilson syndrome | ZEB2 |
| Moyamoya disease | HLA-B, MMP9, MMP2, TIMP2, RNF213, GUCY1A1, ACTA2 |
| MRKH syndrome (congenital uterus and vaginal aplasia) | INHA, FSHR, INHBA, LHB |
| mucinous adenocarcinoma | MUC2, MUC4, MUC6 |
| mucinous cystadenocarcinoma | SGK1 |
| Mucocutaneous lymph node syndrome | HLA-DRB1, HLA-C, TNF, HLA-B, IL6, VEGFA, HLA-A, CCR5, TGFB1, IL10, IL4, IL1RN, IL18, MMP7, MMP12, CXCL8, TP53, CASP3 |
| Mucolipidosis III | GNPTG |
| Mucolipidosis IV | MCOLN1 |
| Mucopolysaccharidosis | GLB1, IDS, GUSB, SGSH, HGSNAT, ARSB, GALNS, GNS, IDUA, NAGLU |
| mucopolysaccharidosis I | IDUA |
| mucopolysaccharidosis II | IDS |
| mucopolysaccharidosis III | NAGLU, GNS, SGSH, COASY |
| mucopolysaccharidosis IV | CCL11 |
| Mucopolysaccharidosis type I | IDUA |
| Mucopolysaccharidosis type II | IDS |
| Mucopolysaccharidosis type III | SGSH, HGSNAT, GNS, NAGLU |
| Mucopolysaccharidosis type IV | GALNS |
| Mucopolysaccharidosis type VI | ARSB |
| Mucopolysaccharidosis type VII | GUSB |
| mucopolysaccharidosis VI | ARSB |
| Mucopolysaccharidosis-plus syndrome | VPS33A |
| Muir-Torre syndrome | MLH1, MSH2 |
| Mulibrey nanism | TRIM37 |
| Mullerian agenesis | WNT4 |
| Mullerian structure defects | AMHR2, AMH, FLT1, KDR, NR5A1 |
| Multi-minicore disease | RYR1, SELENON |
| Multicentric carpotarsal osteolysis syndrome | MAFB |
| Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | CEP55 |
| Multiple congenital anomalies-hypotonia-seizures syndrome | PIGA, PIGN, PIGT |
| Multiple cutaneous and uterine leiomyomata | FH |
| Multiple endocrine neoplasia | PRKAR1A, FGF2, MEN1 |
| Multiple endocrine neoplasia syndrome | MEN1, CDKN1B, RET |
| Multiple endocrine neoplasia type 2A | RET |
| Multiple epiphyseal dysplasia | COL9A3, COL2A1, COL9A1, SLC26A2, MATN3, COMP, COL9A2 |
| Multiple epiphyseal dysplasia 4 | SLC26A2 |
| Multiple exostoses | EXT1, EXT2 |
| Multiple familial trichoepithelioma | CYLD |
| Multiple implantation failure | LIF |
| Multiple implantation failures | TNF, IL4 |
| Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | B3GAT3 |
| Multiple Mental Retardation Syndrome | FLRT3 |
| Multiple mitochondrial dysfunctions syndrome | ISCA2, IBA57, NFU1, ISCA1, BOLA3 |
| Multiple morphologic abnormalities of the flagella (MMAF) | DNAH1 |
| Multiple morphological abnormalities of flagella (MMAF) | DNAH2 |
| Multiple morphological abnormalities of sperm flagella (MMAF) | FSIP2 |
| Multiple morphological abnormalities of the flagella (MMAF) | CFAP69, ARMC2 |
| Multiple Morphological Abnormalities of the sperm Flagella | DZIP1 |
| Multiple morphological abnormalities of the sperm flagella (MMAF) | CFAP70, CFAP65, CFAP44 , SPEF2, CFAP43 , CEP135 |
| Multiple morphological abnormalities of the sperm flagellum (MMAF) | WDR66 |
| Multiple morphological anomalies of sperm flagella (MMAF) | FSIP2, CEP135, CFAP44, CFAP43, WDR66 |
| Multiple morphological anomalies of the sperm flagella (MMAF syndrome) | QRICH2 |
| Multiple myeloma | FGFR3, MYC, TP53, KRAS, CCND1, MAF, NSD2, CCND3, FLT3LG, RANBP2, CHI3L1, PRAME, ABCG2, BCL2L10, ENG, CBL, CD86, CFHR1, TNFRSF10A, TFRC, RUNX1, TNFRSF17, SPP1, FGG, CD40, EPHX1, NQO1, NFKBIA, XRCC4, TYMS, IL4R, CBX7, CYP2C19, FCGR2A, TNF, CTLA4, XRCC5 |
| Multiple organ failure | NOS3 |
| Multiple pterygium syndrome | CHRND, CHRNG, CHRNA1 |
| Multiple sclerosis | IFNAR2, HSPD1, KANK1, MALT1, A2M, MMP9, HLA-DPB1, ITGA4, ADCYAP1, HLA-DQB1, MMP7, MMP2, MMP12, NGF, IL2RA, HLA-DRB1, HLA-C, COMT, BDNF, HSPB1, MAPK1, HLA-G, SERPINE1, VDR, BSCL2, HLA-DQA1, NOS2, TNF, HLA-B, DKKL1, ASAP1, APOA1, KIR2DL2, MTHFR, EME1, PLCG1, NECTIN2, SPEF2, TNFAIP3, ADAM10, CD24, SOX8, DDEF1, ADAD1, NOS3, PRKCA, RAD51, RAD21L1, LIF, PAFAH1B1, FASLG, FAS, FCGR3A, PPARG, IL6, POLG, ESR1, VEGFA, HLA-A, TNFRSF1B, PRL, IFNG, CCR5, APOE, TGFB1, KIR2DS2, PON1, IL1B, IL10, HSPA1L, HSPA1B, HSPA1A, IL2, IL1A, IL4, ICAM1, IL1RN, IL21, LEP, ACE, PTGS2, BAX, NR3C1, MTRR, IL17A, GC, GSTT1, GSTM1, TP53, CXCL8, HFE, PLAU, AIF1, PARP1, MEFV, TLR4, TLR2, STAT3, CCL5, IL12A, BCL2, MT-ATP6, MT-ATP8, PRLR, PRF1, IL5, CASP9, CASP3, RAD23A, APEX1, IGF2R, MPG, MIF, OGG1, TYK2, STAT1, PARP2, ERCC2, CYP24A1, ERCC1, XAB2, XRCC1, XPC, XPA, TNFSF10, VDAC1, TAC3, BRCA2, BRCA1, SOD1, RAD23B, CASP8, PRM1, LIG4, PCNA, CDC42, PDCD1, TNFRSF1A, CCL7, NGFR, IL13, EDN1, CNP, PRKN, IL21R, MT-ND1, GRM8, GRN, PLA2G7, ACAN, CACNA1B, MA |
| Multiple spermatogenic defects | GOLGA3 |
| Multiple sulfatase deficiency | SUMF1 |
| Multiple synostoses syndrome | FGF9, GDF5 |
| Multiple synostosis syndrome | GDF5 |
| Multiple system atrophy | FMR1, UCHL1, TNF, SERPINA3, TGFB1, ICAM1, GBA, COQ2, MT3, AMBRA1, MIR96, SLC6A6, SNCA, KLK6 |
| Muscle glycogen storage disease | LDHA, PFKM, GYG1, GBE1, PGM1, AGL, ALDOA, PGAM2, ENO3, GYS1, PYGM |
| Muscular disease | TUBG1, HMGCR, LPL, ITGA7, CPT2 |
| Muscular dystrophy | ANO5, TNF, MYH8, FKTN, SGCA, COL6A3, TRIM32, CAV3, POMGNT1, SGCD, POMT1, SYNE1, DYSF, SGCB, CAPN3, FKRP |
| Muscular dystrophy-dystroglycanopathy | B4GAT1, RXYLT1, POMGNT2, B3GALNT2, LARGE1, POMK, POMGNT1, POMT1, DAG1, FKTN, FKRP, GMPPB, CRPPA |
| Muscular dystrophy-dystroglycanopathy type A | B4GAT1, RXYLT1, POMGNT2, B3GALNT2, LARGE1, POMK, POMGNT1, POMT1, DAG1, FKTN, FKRP, GMPPB, CRPPA |
| Muscular dystrophy-dystroglycanopathy type B | LARGE1, POMGNT1, POMT1, FKTN, FKRP, GMPPB |
| Muscular dystrophy-dystroglycanopathy type B5 | FKRP |
| Muscular dystrophy-dystroglycanopathy type B6 | LARGE1 |
| Muscular dystrophy-dystroglycanopathy type C | POMK, POMGNT1, POMT1, DAG1, FKTN, FKRP, GMPPB, CRPPA |
| Mutism | CNTNAP2 |
| Myasthenia gravis | HLA-DQB1, HLA-DRB1, HLA-C, TNF, HLA-DRA, HLA-DQA1, HLA-B, FCGR3A, IFNG, HLA-A, APOE, IL10, IL1A, ACE, NR3C1, ABCB1, CCR5, IL12A, IL6, CXCL10, CXCR3, CHRM1, PTPN22, ADRB2, IL2RB |
| Mycosis fungoides | FAS, CDKN2A, CDKN2B, JUNB, NAV3, TP53 |
| Myelin deficiencies | SOX10 |
| Myelodysplastic syndrome | HLA-DRB1, TNF, TGFB1, CYP1A1, GSTM1, GSTT1, GSTP1, TP53, ERCC2, DNMT3A, IDH1, JAK2, SF3B1, ASXL1, RUNX1, IDH2, GATA2, ZRSR2, SRSF2, U2AF1, TET2, CD40, CSF3R, GFI1, CFLAR, ITGB3, DDX42, SRSF11, GATA1, RAP1GAP, PRAME, BCL2L10, CDKN2B, ARPC1B, ZFPM2, CDKN1B |
| Myelodysplastic/myeloproliferative neoplasms | JAK2, SF3B1, ASXL1, CSF3R, KRAS, RUNX1, IDH2, CBL, ZRSR2, SRSF2, U2AF1, TET2, NF1, SETBP1 |
| Myelofibrosis | JAK2, MPL, CALR, FLT3LG, GATA1, TP53, ASXL1 |
| myeloid leukemia | MPL, SNCA, PECAM1, CAMLG, CSF3, CBX7, PRAME, ERG, PDGFRA, MN1, NSD3, GATA2 |
| Myeloid neoplasm | CD36, GFI1B, EGR1, JAK2, CBL, MECOM |
| myeloid sarcoma | PDGFRA, KRAS |
| Myelopathy | HLA-DRB1, TNFRSF1B, MMP9, GATA1 |
| Myeloperoxidase deficiency | MPO |
| Myeloproliferative neoplasm | CSF3R, TET2, PDGFRB |
| Myeloproliferative syndrome | GATA1 |
| MYH9-related disease | MYH9 |
| Myhre syndrome | SMAD4 |
| Müllerian duct syndrome | AMH |
| Myocardial Infarction | INSR, MEF2A, CST3, APOA1, TF, CYP1A2, ANXA5, IL10, PDCD1, TNFRSF1A, A2M, ALOX15, AHR, ATR, ENO1, IL33, F2R, TNFRSF1B, ADAMTS1, MYB, CNR2, IL1B, IL1A, CRP, ESR1, IL1RN, NR1I2, MTR, APOE, APEX1, ITGB1, TFPI, PPARGC1A, F7, CHI3L1, ECE1, AHSG, PROC, FABP3, TNFRSF11B, EDN1, SELP, SDC4, SOD3, PLA2G7, EPO, IL18BP, CSF3, MMP14, ITIH4, SPP1, APOH, FGF1, VEGFB, ANG, ITGA2, KLK1, NPR1, PCSK2, PECAM1, LRPAP1, OLR1, CIITA, LGALS2, LTA, APOA4, MGP, AGT, CTLA4, CCL2, ITGB3, AGER, ALOX5AP, ADD1, F2, GJA4, ADRB2, ALDH2, LIPG, LPL, AGTR1, PPARA, CYP2J2, TNFSF4, GCLC, COL4A1, ADRA2B, FGB, LRP1, F12, HP, GP1BA |
| Myocardial Ischemia | ABCA1 |
| Myoclonic epilepsy | TRNL1, SLC6A1 |
| Myoclonic Epilepsy and Ragged-Red Fiber Disease | ND5 |
| Myofibrillar myopathies | DES, CRYAB, BAG3, FLNC, PYROXD1, LDB3, KY |
| Myofibrillar myopathy | DES |
| Myoglobinuria | PGAM2 |
| Myopathy | HLA-DRB1, HLA-DQB1, MYH7, DNM2 |
| Myopathy with lactic acidosis and sideroblastic anaemia | PUS1, ISCU |
| Myopia | COL1A1, HGF, HLA-DQB1, BDNF, RARA, TGFB1, TIMP1, IGF1, SOX2, DCN, MMP2, SLC39A5, LRPAP1, ZNF644, P4HA2, SCO2, PRIMPOL, COL2A1, PARL |
| Myosclerosis | COL6A2 |
| Myosin storage myopathy | MYH7 |
| Myositis | HLA-DRB1, HLA-DQB1, HLA-B, FCGR3A, HLA-DQA1 |
| Myotonia congenita | CLCN1 |
| Myotonic dystrophy | DMPK, CNBP, AR |
| Myotonic dystrophy type 1 | LDB3, AR |
| Myxoid liposarcoma | DDIT3 |
| Naegeli-Franceschetti-Jadassohn syndrome | KRT14 |
| Nail-patella syndrome | LMX1B |
| Nance-Horan syndrome | NHS |
| Nanophthalmos | TMEM98, MFRP |
| Narcolepsy | MOG, HCRT |
| NARP syndrome | ATP6 |
| nasal cavity cancer | TP53 |
| Nasal polyposis | IL33, HLA-DQB1, IL5, HLA-DRB1, TNF, HLA-DQA1, CCL5, MMP2 |
| Nasopharyngeal cancer | EDNRB |
| nasopharynx carcinoma | SNRPD1, SNRPF, SNRPE, SNRPG, WRAP53, TP53, CYP2E1 |
| Nasu-Hakola disease | TYROBP, TREM2 |
| Native American myopathy | STAC3 |
| Naxos disease | JUP |
| Necessary for mouse spermatogenesis | KHDRBS1 |
| Necessary for proper coordinated beating of the sperm flagellum and male reproductive physiology | TEKT4 |
| Necessary to produce the fully 'fusion competent' sperm | SPESP1 |
| Necrotizing enterocolitis | IL4 |
| Necrozoospermia | CAPZA3, ADCY1, ZNF174, TNFRSF25, TRH |
| Nelson's syndrome | NR3C1 |
| Nemaline myopathy | TPM1, TPM3, NEB, CFL2, KLHL41, MYPN, KLHL40, TNNT1, TPM2, KBTBD13, ANKRD1 |
| Nemaline myopathy 5 | TNNT1 |
| Neonatal adrenoleukodystrophy | PEX26, PEX13, PEX5, PEX1 |
| Neonatal ichthyosis-sclerosing cholangitis | CLDN1 |
| Neonatal male testosterone and AMH levels | NR5A1 |
| Neoplasm | MDM2 |
| Neoplastic syndromes | BRCA2 |
| Neovascular glaucoma | EDN1 |
| Neovascular inflammatory vitreoretinopathy | EDN1, IGFBP6, FGF2, AGER, APOA4, LTA, LRP5 |
| Neovascularization | KDR |
| Nephritis | SERPINE1, VEGFA, NPHP1 |
| Nephroblastoma | AMER1, TP53, FZD7, SERPINF1, CXCR2, SIX1, VEGFC, APOC3, TERC, JUP, WIF1, CDKN1B, KDM4D, BCL2L1, TIMP4, DIS3L2 |
| nephrogenic diabetes insipidus | AQP2, AVPR2 |
| Nephrogenic syndrome of inappropriate antidiuresis | AVPR2 |
| Nephrolithiasis | VDR, FN1, IL1B, IL1RN, PLAU, RGS14, SLC34A1 |
| Nephrolithiasis/osteoporosis, hypophosphatemic | SLC9A3R1, SLC34A1 |
| Nephronophthisis | NPHP1, NPHP4, WDR19, NEK8, DCDC2, SDCCAG8, TTC21B, CEP164, TMEM67, XPNPEP3, MAPKBP1, INVS, CEP290, NPHP3, ZNF423, ANKS6, GLIS2, IQCB1, CEP83, RPGRIP1L |
| Nephropathy | MMP9, HLA-DRB1, HLA-DQB1, LMNA, SERPINE1, VWF, TNF, NOS3, SLC2A1, FCGR3A, IL6, VEGFA, APOE, HLA-DQA1, IFNG, PON1, IL1B, IL10, TGFB1, CYP11B2, IL4, IL1RN, PON2, ACE, GHRL, HLA-DPB1, CCR5, CCL5, APEX1, LTF, AGTR1 |
| Nephropathy with pretibial epidermolysis bullosa and deafness | CD151 |
| Nephrosclerosis | ADRB1 |
| Nephrosis | NOS3, HLA-B, HLA-A, IL4, GATA3 |
| Nephrotic syndrome | HLA-DRB1, HLA-DQB1, TNF, IL6, HLA-A, APOE, IL1RN, IL4, NR3C1, GSTT1, GSTP1, GSTM1, ABCB1, MIF, WT1, NUP93, DGKE, NUP107, COQ8B, NUP205, KANK2, EMP2, PLCE1, PTPRO, NPHS1, MAGI2, PLA2G7, APOC3, TFPI, GPX3, GP1BA, TNFRSF11B, EPO |
| Nephrotic syndrome type 1 | CCL11, NPHS1 |
| Nephrotic syndrome type 2 | PLCE1, PLA2G7 |
| Nervous system diseases | MTHFR, F5, GBA |
| Netherton syndrome | SPINK5 |
| Neu-Laxova syndrome | PSAT1, PHGDH |
| Neural tube defect | MTHFD1L |
| Neural tube defects | CFL1, CHKA, NAT2, PCMT1, ALDH1A2, CYP26B1, MTHFR, NOS3, CYP1A2, MTRR, MTR, SLC19A1, TP53, CBS, BMP4, APEX1, CD320, OGG1, ERCC2, XRCC1, MTHFD1 |
| Neuralgia | COMT |
| Neurilemmoma | ATAD5, SIX1, PECAM1 |
| Neuroaxonal dystrophy | NAGA |
| Neuroblastoma | NTRK3, MYCN, NTRK1, TP73, NTRK2, SNRPE, PRAME, CHAF1A, SCNN1A, ALOX5AP, PECAM1, ARID1B, NSD1, NME1, ARID1A |
| Neurocirculatory asthenia | SLC6A2 |
| Neurodegeneration due to cerebral folate transport deficiency | FOLR1 |
| Neurodegeneration with brain iron accumulation | FTL, REPS1, C19orf12, WDR45, CRAT, COASY |
| Neurodegeneration with brain iron accumulation 3 | FTL |
| neurodegenerative disease | EPO, FTL, FUS |
| Neurodegenerative diseases | TF, APOE, PLA2G6, HFE, OTX1 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | ZSWIM6 |
| neuroendocrine carcinoma | ENO2 |
| Neuroferritinopathy | FTL |
| Neurofibromatosis | NF2, PTPN11, CDKN2A, SPRY4, NF1 |
| Neurofibromatosis type 1 | NF1 |
| Neurofibromatosis-Noonan syndrome | NF1 |
| neurofibrosarcoma | MXI1 |
| Neurogenic arthrogryposis multiplex congenita | ERGIC1 |
| Neurohypophyseal diabetes insipidus | AVP |
| Neuromuscular disease | GPI |
| Neuromuscular diseases | AR |
| Neuromyelitis optica | AQP4, S100B |
| Neuronal ceroid lipofuscinosis | CTSD, PPT1, CLN8, MFSD8, CTSF, TPP1, DNAJC5, CLN3, GRN, CLN6 |
| Neuropathy | HLA-DRB1, HLA-DQB1, FAS, POLG, HLA-B, HLA-A, APOE, SOD2, GSTT1, GSTM1, TP53, HSPB1, BSCL2, NGF |
| Neurosis | DRD4 |
| Neuroticism | COMT, BDNF |
| Neutropenia | HLA-DRB1, MTHFR, TNF, GSTT1, GSTP1, GSTM1, ABCB1, MTR, ERCC2, XRCC1, XPA, ERCC1, ELANE, MKI67, C5, CSF3, AP3B1, FCGR2A |
| Neutropenic disorders | HAX1, WAS, GFI1 |
| Neutrophil specific granule deficiency | CEBPE |
| nevoid basal cell carcinoma syndrome | PTCH1, SMO, GLI1 |
| newborn respiratory distress syndrome | MBL2, SFTPB, SFTPC, SFTPD |
| Newfoundland rod-cone dystrophy | RLBP1 |
| Nicolaides-Baraitser syndrome | SMARCA2 |
| Niemann-pick disease | NPC2, SMPD1 |
| Niemann-Pick disease type A/B | SMPD1 |
| Niemann-Pick disease type C | NPC1 |
| Night blindness | SAG, RLBP1, NYX, GRK1, RDH5, RHO |
| Nijmegen breakage syndrome (NBS) | NBN |
| Nijmegen syndrome | RAD50 |
| NOA including hypospermatogenesis | EPAB |
| Nocturnal frontal lobe epilepsy | CHRNA2, CHRNA4, CHRNB2, KCNT1 |
| Non obstructive azoospermia | EGFR, PLK4, AMH, DAZL, HSFY1, KDM5C, BPY2, BRD4, RBMX2, NOS3, GTF2A1L, USF1, OR2W3, HLA-DQB1, HLA-DR13, DDX3Y, HSP90AB1, HSPA4L, FSHR, PTGDS, BIRC5, CCNA2, INHBA, BAK1, GSTM3, PRDM9, CRISP1, BCLW, DMRT1, MAST2, SYCP3, SOHLH1, NXF2, STX2, PEX10, DAZ1, ESX1, PABPC3, MAS, FSHB, BOLL, PILRA, TDRD5, CREM, AR, ACR, GAA, DNMT3B, ATM, NR5A1, ZNF676, COX10, BRDT, HLA-DPB1, ITGA6, LGALS3BP, PRM1, USP1, BRWD1, RNF8, CDY2A, UBR2, PRMT6, RNF17, EPAB, USP26, SYCE1, TSG23, HORMAD2, MIR141, MIR7-1, DNMT3A, MIR34C, PABPC1, PTBP2, ICAM1, ETV5, NPAS2, HLA-A, DDR1, MTHFR, HLA-DRA, CDC42BPA, ENTPD6, FANCM, PRM2, CHD2, NR3C1, GNAO1, BCL2, ART3, MIR491, GILZ, SOHLH2, LAMB1, MIR302A, PGAM4, miR-383, MIR520D, EPPIN, MIR122, MIR34B, MIR429, CYP1A1, E2F1, SFRS4, SFRS6, SFRS9, SOX5, WT1, SIRPG, SIRPA, MTR, INSL3, APOA1, BAX, SCF, INHBB, CALB2, PAK1, NODAL, DDX4, MTRR, CDY1, DNMT1, LOC100034248, LOC100101148, MIR509-3, ZNF737, SYCE1L, C7orf72, C5orf52, LOC100287728, ANKRD61, NT5C1B-RDH14, MROH7-TTC4, DNM3OS, TSPAN1, TBC1D3L, LOC101060389 |
| Non obstructive azoospermia, Sertoli cell only syndrome | LOC100132147, TUBA3D, OVOL1, THEG, PRKCZ, KIAA1324, CATSPERG, FSCB, DRC7 |
| Non obstructive azoospermia (NOA) | NOS3 |
| Non- obstructive azoospermia | BPY2-1, AIF1, BRD, MIR31, MIR370, MIR516B1, MIR539, KDM5C2, HSFY, RNF8 |
| Non- obstructive azoospermia, maturation arrest | RBMX2 |
| Non-alcoholic fatty liver | GGT1 |
| Non-alcoholic fatty liver disease | TLR9, PLA2G7, KRT18, HAMP, TNF, IL13, GPT, RARRES2, CCL2, IFNA2, HP, UCP2, GPT2, ADIPOQ, DGAT2, MTTP, ALDH2, PNPLA3, SAMM50, PPARGC1A, ADIPOR2, ADRB3 |
| Non-alcoholic steatohepatitis | KRT18, SMAD4, NR1H4, MIR223, CCL2, APOA1 |
| Non-allergic nasal polyposis | GSTT1 |
| Non-CBAVD obstructive azoospermia | CFTR |
| Non-dystrophic myotonia | CLCN1, SCN4A |
| Non-epidermolytic palmoplantar keratoderma | KRT6C |
| Non-functioning pancreatic endocrine tumor | CDK6 |
| Non-Hodgkin lymphoma | BAT2, RAD51, GSTM3, PRF1, ANXA7, CD40, FCGR2A, CCND1, KMT2A, EPHX1, CTLA4 |
| non-Langerhans-cell histiocytosis | RAB27A |
| Non-malignant gynecologic disease (NMGDs) | CA125 |
| Non-normozoospermia | INHA |
| Non-obstruction azoospermia | OR2W3 |
| Non-obstruction azoospermia (NOA) | GTF2A1L, USF1 |
| Non-obstructive azoopermia | HLA-DPB1, HLA-DQB1 |
| Non-obstructive azoospermia | TSBP1, DMC1, TDRD9, SPATA17, TSG23, PIWIL4, Hormad2, MEI1, ZNF676, UBR2, PABPC1, GNAS, PILRA, HIST1H1E, HLA-DRA, STRA8, ZCCHC13, SOHLH1, ART3, MSH5, MTHFR, PABPC3, ERAP1, PEX10, PRMT6, TEX11, PTBP2, FSHB, FKBPL, BOULE, MIR34C, EPAB, ESX1, TP53 |
| non-obstructive azoospermia (NOA) | CHD2, DMRT1, MTOR, GNAO1, NR3C1, HLA, PGAM4, miR-383, SOHLH2, EPPIN, MIR520D, FANCM, BCL2, KISS1R, CDC42BPA, LAMA5, ENTPD6 |
| Non-obstructive dyspermia | AMH |
| Non-obstructive male infertility | MTR |
| Non-obstructive azoospermia | COX10, DNMT1, DNMT3B, ITGA6, AR, LGALS3BP, MIR141, BRWD1, MIR429, RNF17, BRDT, USP1, CALB2, USP26, SYCE1 |
| Non-obstructive azoospermia(NOA) | WT1 |
| Non-obstructive azoospermia (NOA) | SIRPA, MTRR, SIRPG, PRM2, SOX5 |
| Non-obstructive infertility | GSTM1 |
| Non-obstructive infertility | DNMT3b |
| Non-obstructuive azoospermia | CDK2 |
| Non-small cell lung cancer | ALK, RARB, KRAS, ROS1, FHIT, TP53 |
| Non-syndromic asthenozoospermia | TEKT2, DNAH11, DNAH5, DNAI1 |
| Non-syndromic deafness | GJA1 |
| Non-syndromic premature ovarian failure | BMP15 |
| Non-syndromic X-linked intellectual disability | GDI1 |
| Non-syndromic X-linked mental retardation | SLC6A8, IL1RAPL1 |
| Nonaka distal myopathy | GNE |
| Nonalcoholic fatty liver disease | PNPLA3 |
| Nonclassical congenital adrenal hyperplasia | CYP21A2 |
| Nonclassical congenital adrenal hyperplasia (NC-CAH) | CYP21A2 |
| Nonketotic hyperglycinemia | GCSH, GLDC, AMT |
| Nonobstructive azoospermia | CCDC155, STX2, ESR2, HSPA4L, MAST2, TDRD7, SPO11, FSHR, AMH, GSTM3, HSPA1B, HSPA4, BIRC5, HSP90AB1, NANOS2, INHB, MIR34B, MIR34C, SYCP3, NXF2, TEX14, PRDM9, PTGDS, WNK3, HORMAD1, MAEL, CCNA2, PLCH2 |
| Nonobstructive azoospermia (NOA) | CLU, NPAS2, TEX15 |
| Nonobstructive azoospermia (NOA), Sertoli cell-only (SCO) syndrome | ETV5 |
| Nonobstructive male infertility | INSL3 |
| Nonobstructive azoospermia | EGFR, HLA-DRB1, BAX |
| Nonobstructive azoospermia(NOA) | CDY1 |
| Nonobstructive azoospermia, Male infertility | BAK, BCLW |
| Nonobstructive azoospermia (NOA) | E2F1, NODAL, SFRS4, SFRS6, DDR1, SFRS9 |
| Nonprogressive cerebellar ataxia with mental retardation | CAMTA1 |
| Nonsyndromic autosomal recessive mental retardation | MAN1B1 |
| Nonsyndromic cleft lip | MTHFR, FGFR1, VAX1 |
| Nonsyndromic congenital nail disorder | COL7A1, PLCD1, FZD6 |
| Nonsyndromic cryptorchidism | ESR1, MYH7, RXFP2, INSL3, AR, TGFBR3 |
| Nonsyndromic deafness | TBC1D24, USH2A, CDH23 |
| Nonsyndromic maturation arrest with multinucleated spermatocytes | STX2 |
| Nonsyndromic cryptorchidism | INSL3, AR, MYH7 |
| Noonan syndrome | AMH, SOS1, PTPN11, MYO15A, AMHR2, INSL3, FGF3, AR, RXFP2, STRC, RAF1, KRAS, BRAF, LZTR1, SOS2, RIT1, PLG |
| Noonan syndrome and related disorders | RIT1, KRAS, SHOC2, BRAF, PPP1CB, LZTR1, SOS2, MAP2K2, CBL, MAP2K1, HRAS, NF1 |
| Noonan-like syndrome with loose anagen hair | SHOC2, PPP1CB |
| Normal follicle development | WNT5A |
| Normogonadotropic anovulatory infertility | FSHR |
| Normosmic hypogonadotropic hypogonadism | GNRHR, EBF2, NELF |
| Normosmic hypogonadotropic hypogonadism | NELF, PGR |
| Normozoospermia | RXFP2, IL6, TNF |
| Norrie disease | NDP |
| North American Indian childhood cirrhosis | UTP4 |
| Norum disease | LCAT |
| No ovarian factor (NOF) | AGTR1 |
| Obesity | COMT, ETV5, MIF, LEPR, INSR, HLA-C, MTCH2, BDNF, INHBB, NODAL, VDR, MYB, FTO, SMAD1, BMP8B, MTHFR, AMHR2, BAT2, ADCY3, EME1, BMPR2, MGAT1, PLTP, PLIN, APOA1, TJP2, INHA, PRKCA, AMH, PENK, HTR2A, NOS3, CYP11A1, POU1F1, SLC2A1, F5, SHBG, LIPE, CYP17A1, LIF, FAS, FST, FSHR, FMR1, IL6, VEGFA, TNFRSF1B, ESR1, INHBA, LHB, PRL, AR, GNAS, PGR, ESR2, CRP, CLOCK, CYP1A2, CYP19A1, SERPINE1, AKT1, MT-CYB, PON1, IL1B, HSPA1B, HMOX1, IL10, NR3C1, TCF7L2, APOE, IL1A, LIN28B, TGFB1, SOD2, HNF1B, HNF1A, LEP, IL1RN, TNFRSF1A, MAPK14, KISS1R, EBF2, PROK2, BMP7, BMP15, IL6R, ACE, HSD17B2, CYP1A1, IGF1R, HFE, GHRL, GSTP1, GSTM1, GABBR2, GSTT1, GNRHR, GNRH1, PON2, GH1, GDF9, ABCB1, AKR1C3, CYP2B6, CYP1B1, CDKN2A, HSD17B4, STAT3, SLC6A14, ACP1, TGFBR3, PRLR, MTRR, MTR, CCL5, APOB, IGF2, HSD3B1, HSD17B3, HSD17B1, PRF1, HSD3B2, IL6ST, CGA, CBS, BMP4, WFS1, TGFB3, SULT1A1, PTPN11, IGFALS, KAL1, SRD5A2, USF1, PROKR2, TNF, DDX4, ERp57, ACTRT2, PPARG, ATP5F1C, AK1, ADIPOQ, FABP3, GIPR, HCRT, GAL, SELP, AGER, AHSG, TFAM, AHI1, ALOX5AP, AD |
| Oblique facial cleft | SPECC1L |
| Obsessive compulsive disorder | COMT, SLC1A1, NTRK3, HTR2A, BDNF |
| Obsessive-compulsive disorder | SLC6A4, DRD4, HRAS |
| Obstructed azoospermia | IFNG |
| Obstruction in azoospermia | TF |
| Obstructive and non-obstructive azoospermia | GFRA1 |
| Obstructive azoospermia | IFNG, IL10, CXCL8, TF, GFRalpha-1, H19, ATRN, SLC9A3, BIRC5, DFFRY, LEP, LEPR, CASP3, CFTR, F2R, AMH, EPPIN, ITGA6, HSFY1, NODAL, PGR, MIR891B, MIR147B, MIR665, MIR216B, MIR935, MIR708, MIR543, MIR891A, MIR889, MIR365A, MIR1224, MIR1468, MIR1246, MIR1298, MIR1185-1, MIR1299, MIR1295A, MIR1185-2, MIR1285-1, MIR1911, MIR1323, MIR1283-1, MIR1233-2, MIR3180-1, MIR3158-1, MIR3925, MIR3940, MIR3663, MIR3150B, MIR548AV, ADGRG2, MIR6507, MIR6715B, MIR6718, MIR7153, MIR7154, MIR7161, MIR7974, MIR7151, MIR7159, CRISP1, MIRLET7F1, MIRLET7F2, MIR105-1, MIR10A, MIR122, MIR127, MIR130B, MIR132, MIR134, MIR136, MIR138-1, MIR142, MIR154, MIR182, MIR184, MIR188, MIR191, MIR192, MIR194-2, MIR199A1, MIR199B, MIR203A, MIR205, MIR206, MIR212, MIR214, MIR216A, MIR217, MIR22, MIR25, MIR296, MIR299, MIR30A, MIR33A, MIR34B, MIR34C, MIR7-1, MIR9-1, MIR96, MIR98, MIR323A, MIR324, MIR326, MIR330, MIR335, MIR337, MIR369, MIR370, MIR371A, MIR372, MIR373, MIR375, MIR376A1, MIR377, MIR379, MIR381, MIR382, MIR424, P2RY4, MIR449A, PTGDS, MIR3 |
| Obstructive azoospermia (OA) | EPPIN, CLDN2, LAMA5 |
| Obstructive sleep apnea | NOS3, SERPINE1, IL1B, IL6 |
| Obstructive azoospermia | ESR1, NODAL, HSFY, CDY2 |
| Obstructive azoospermia (OA) | PGR, DDX4, PRM2 |
| Occipital horn syndrome | ATP7A |
| Occult macular dystrophy | RP1L1 |
| Occupational diseases | MDM2 |
| Ocular albinism | MITF, GPR143 |
| Ocular cicatricial pemphigoid | HLA-DRB1 |
| Ocular coloboma | SALL2, YAP1 |
| Ocular hypertension | C1QB, CDKN1A, MYOC |
| Ocular physiological phenomena | PRDM9 |
| Oculocutaneous albinism | SLC24A5, SLC45A2, TYR, OCA2, LRMDA, MC1R, TYRP1, HPS1 |
| Oculocutaneous albinism type IA | TYR |
| Oculocutaneous albinism type II | OCA2 |
| Oculocutaneous albinism type IV | SLC45A2 |
| Oculodentodigital dysplasia | GJA1 |
| Oculopharyngeal muscular dystrophy | PABPN1 |
| Odontochondrodysplasia | TRIP11 |
| Odontogenesis | TNP1 |
| Odontoonychodermal dysplasia | WNT10A |
| OFC syndrome | PAX1, EYA1 |
| oligo-asthenozoospermia | ACPP |
| Oligo-teratozoospermia and infertility | PPP1CC2 |
| Oligoamenorrhea | LHCGR, LHB, LHR |
| Oligoashenoteratospermia | TAC3 |
| Oligoastenoteratozoospermia | ESR2 |
| Oligoasthenospermia | RABL2A, DAZ1, MTND5, PHB, SNRPN |
| Oligoasthenoteratospermia | TAC3, ESR2, BRCA1, BRCA2, XDH, SOD1, TPX1, XO |
| Oligoasthenoteratospermia syndrome | PRDX2 |
| Oligoasthenoteratozoospermia | GPX1, FN1, ACE, SOD1, AR, MMP12, MTHFR, EDDM3A, TDRD6, RABL2B, FSHB, MIR34C, ESR1, LHB, CFTR, HMOX1, PTGS2, MTRR, GALNT3, GSTM1, GSTP1, PTGS1, CASP9, MCT2, SPAG11B, SPAG11A, EDDM3B, KISS1, SPINK2, INSL3, TNF, FSHR, CAMK4, KATNB1, IGF2, PRL, IL1B, SERPINE1, PLAU, PLAT, SIRT1, NOS2, DAZ1, POLG, AHR, CADM1, HO-1, MTR, TP53 |
| Oligoasthenoteratozoospermia (OAT) | KATNB1, DAZ1, IGF2, CAMK4 |
| Oligoasthenoteratozoospermia (OAT) syndrome | LH, PRL, FSHB |
| Oligoasthenoteratozoospermia (OAT-syndrome) | SERPINE1, PLAT, PLAU |
| Oligoasthenoteratozoospermia and infertility | MIR34A |
| Oligoasthenoteratozoospermia, varicocele, male infertility | PTGS1 |
| Oligoasthenozoospermia | ACE, DAZ1, SNRPN, PHB, IL6, MTHFR, IL10, CXCL8, IL5, RABL2A, CD79A, MMP12, DAO, MTRR, ND4, NFE2L2, MTR, NGF, NOS2, AR, BDNF, PLAUR, SRY, USP26, GPX4, SOD1, LHB, LAMB1, PLAU, NPC2, GPX1, IL2, PGR, PRM1, SOD2, LGALS3BP, AZGP1, CASP3, CKM, LCN1, PIP, CIB1, TEKT2, HOTAIR, KISS1, NTRK1, TP73, PSA, BIRC5, ACP3, MSMB, CATSPER2, GAA, MIR873, MIR374B, MIR891A, MIR1275, MIR1299, MIR1306, MIR1228, MIR1973, MIR762, MIR2115, MIR320D1, MIR4306, MIR3154, MIR320E, MIR3149, MIR4284, MIR4286, MIR4298, MIR4299, MIR3609, MIR3675, MIR3679, TPPP2, GSTM1, HSP90AA1, FAS, IL8, KRT1, MIRLET7B, MIRLET7C, MIRLET7D, MIR100, MIR122, MIR125A, MIR127, MIR132, MIR139, MIR141, MIR148A, MIR150, MIR15A, MIR15B, MIR16-1, MIR17, MIR185, MIR187, MIR192, MIR193A, MIR19A, MIR20A, MIR200A, MIR200B, MIR200C, MIR205, MIR206, MIR21, MIR23A, MIR23B, MIR24-1, MIR25, MIR26A1, MIR26B, MIR27A, MIR27B, MIR28, MIR29A, MIR29B1, MIR29B2, MIR29C, MIR30B, MIR30C1, MIR30D, MIR30E, MIR34B, MIR34C, MIR93, MIR96, MIR98, MIR99A, MIR99B, MIR331, MIR335, MIR373, MIR374A, |
| Oligoasthenozoospermia, Male infertility | PEX10 |
| Oligoasthenozoospermia | GPX4 |
| Oligoazoospermia | INHBA, SOX3, INHB |
| Oligodendroglioma | PTGES3 |
| Oligodontia-colorectal cancer syndrome | AXIN2 |
| Oligohydramnios | PTGS2, IL1RN |
| Oligomenorrhea | AMH, PRLR, NR5A1, CGA, LHB |
| Oligospermia | CFTR, CHKA, PARP1, DNMT1, NR0B1, UBR2, GSPT1, GSTM1, GSTT1, HLA-B, PSA, KIT, LEP, LTF, MIR21, MIR22, KITLG, NFKB1, AZGP1, Pygo2 |
| Oligospermia with varicocele | FAM47C |
| Oligoteratoasthenoazoospermia (OTA) | IL10 |
| Oligoteratospermia | XDH, SOD1, XO |
| Oligoteratozoospermia | FSHB, PPP1CC |
| Oligozoopsermia | SULT1E1 |
| Oligozoospermia | DDX25, DAZ3, DAZ4, LIMK2, FSHR, DAZ1, BOLL, AHR, FKBP6, FASLG, GSTT1, AR, DAZ2, TEX14, PPP1CC, SOX3, MT-ND4, BRCA2, CFTR, H2AX, HMGB2, KDM3A, SMC1B, STYX, POLG, HLA-B, HLA-A, DDX3Y, SOD1, NOS1, CHKA, LHCGR, DAX1, LTF, DNMT1, HSFY1, H19, KLK3, FSHB, ACPP, LHB, GSTM1, GSTP1, MTHFR, NR0B1, GNRHR, PARP1, LEPR, KIT, KITLG, XDH, AZGP1, VASA, PYGO2, IZUMO1, MIR21, MIR22, KLC4, TNF, TP73, SULT1E1, NANOS1, GPX1, IL1A, TP53, PRL, B2M, CYP19A1, COMT, USP26, RBMY1A1, USP9Y, CXCL8, MMP9, SRY, HABP1, MLH1, BPY2, ALB, DAZL, PIP, INHBA, CREM, SHBG, RHOXF1, RHOXF2B, CYP17A1, ADM, CDH1, VEGFA, PRM1, CKM, LDHC, ESR1, IL6, ESR2, PGR, IL1B, PTGDS, HSPA4, PLAT, PLAGL1, TGFB1, MTR, LEP, NR5A1, SPO11, HSD17B2, CYP1A1, GH1, GOLGA2P3Y, CYP1B1, HSPA2, XPC, TF, TERT, PRM2, OXT, IGF2, EPHX2, CASP3, DDX4, OXTR, FAS, CBS, PROK1, SNRPN, PLCXD3, CCNA1, HAUS7, BRDT, SCA1, AHRR, SPGY, NRIP1, SMCY, GNRH1, HSF1, YBX2, HSF2, HSP90AA1, IFNA1, LDHA, MEST, PEG3, PEX10, SRD5A2, TEP1, UBE2B, CDY1, ZMYND15, KCNQ1OT1, MLH3, TEX11, TTTY2L2A, KLHL10, OR2W |
| Oligozoospermia or azoospermia | TAS2R38, KIF17 |
| Oligozoospermic | LIT1, PEG3, PLAGL1 |
| Oligozoospermic men associated with varicocele | TF |
| Olivopontocerebellar atrophy | APTX |
| Omenn syndrome | RAG2 |
| Omenn syndrome severe combined immunideficiency | TNF, IFNG, IL10, IL1RN |
| Omodysplasia | FZD2, GPC6 |
| Omphalocele | MTHFR, MTHFD1, SLC19A1 |
| Onchocerciasis | IL13, HLA-DPA1 |
| Oocyte activation deficient [OAD] | PLCZ1 |
| Oocyte competence | NOS2, HMOX1, BCL2 |
| Oocyte defects | ZP3 |
| Oocyte development and maturation | TNF, IL1A |
| Oocyte embryo quality | AMH |
| Oocyte maturation | PAPPA, MT-CO1, BDNF, MTHFR, IGF1, GDNF, EGF, ZP3, NRF1, APOE, AMH, BMP15, VEGFA, ITGA5, ITGA6, CD9, ZP1, GDF9 |
| Oocyte maturation defect | TUBB8 |
| Oocyte maturation, fertilization, embryo quality, and pregnancy outcome | BMP15 |
| Oocyte number | AQP7 |
| Oocyte quality | NOS3, HMOX1, SOD2, GSTT1 |
| Oocyte quantity | AMH, INHA, INHBA |
| open-angle glaucoma | APOC3, OPTN, CDKN2B, TNF, ADRB2, MYOC, TAP1, AFAP1, GMDS |
| Ophthalmia | HLA-DRB1, TNF, HLA-DQA1, IL10 |
| Opitz-GBBB syndrome | SPECC1L, MID1 |
| Optic atrophy | ND4, ATP6, MT-ND4, OPA3, TMEM126A, ACO2, OPA1, RTN4IP1, YME1L1 |
| Optic disc anomalies with retinal and/or macular dystrophy | SIX6 |
| Optic Disk | CHEK2 |
| Optic nerve disease | AGER, EDN1 |
| Optic nerve diseases | GSTT1, GSTM1, SOX2 |
| Optic nerve glioma | NF1 |
| optic neuritis | MOG |
| Oral cancer | KRAS, CCND1, TP53 |
| oral cavity cancer | CYP2E1, SOD3 |
| Oral clefts | TGFA, FGFR2, SHH, CHDH |
| oral squamous cell carcinoma | IL13RA2, BARHL2, CBX2, ARPC1B, CDKN1A, ATP6V1C1, MIR187, AGAP2, CTNND1, BST2, MCPH1, TP53, CCL2, BRINP2, CYP2E1 |
| Oral submucous fibrosis | TP53 |
| Oral-facial-digital syndrome | OFD1, IFT57, TCTN3, CPLANE1, INTU, MNR, TMEM107, C2CD3 |
| Orchiectomy | VDR |
| Ornithinaemia | OAT |
| Orofacial cleft | LOXHD1, MYH9, ACSS2, PHYH |
| Orofaciodigital syndrome I | OFD1 |
| Oropharyngeal cancer | TP53 |
| Orotic aciduria | UMPS |
| Orthostatic intolerance | SLC6A2 |
| Ossification of the posterior longitudinal ligament of spine | TGFB3, COL11A2, ENPP1, COL6A1 |
| Osteoarthritis | COL1A1, MMP2, TP53, HLA-DRB1, HLA-DQB1, AIF1, VDR, RHOB, CALM1, TNF, ESR1, VEGFA, ESR2, AR, IL6, KIR2DS2, IL1B, HLA-DQA1, TNFRSF1B, IL1A, SERPINA3, TGFB1, PTGS2, IL1RN, IGF1, HFE, ACE, TNFRSF1A, MMP9, CXCL8, KIR2DL2, EPAS1, CCL22, CCR4, INS, BECN1, MMP8, HBP1, IL4R, EGR1, JAG1, IHH, SERPINA1, FCGR2A, MMP13, POMC, GHR, CD36, NCOR2, CILP, ADAM12, TNFRSF11B, CLEC3B, BMP2, TENT5A, ADAMTS14, COL2A1 |
| Osteoarthritis with mild chondrodysplasia | COL2A1 |
| Osteochondrodysplasia | COL2A1, COL9A3, COL9A2, COL11A2, SLC26A2, FLNB, HSPG2, COMP, DYM, PTH1R, COL9A1, CHST3, MATN3, TRPS1, LIFR |
| Osteocraniostenosis | FAM111A |
| Osteogenesis imperfecta | COL1A1, PPIB, FKBP10, TMEM38B, BMP1, COL1A2, P3H1, SERPINF1, SP7, SERPINH1 |
| Osteoglophonic dysplasia | FGFR1 |
| Osteolysis | TNF, IL6, IFNG, IL1B, IL10, IL1A, TGFB1, IL2, IL1RN |
| Osteomalacia | VDR |
| Osteomyelitis | NOS2, NOS3, IL6, IL1A, IL4, BAX |
| Osteonecrosis | ANXA2, VDR, APOA1, NOS3, ESR1, SERPINE1, PON1, MTHFR, HIF1A, ABCB1, BGLAP, APOB, CAT, TFPI, F2 |
| Osteopathia striata with cranial sclerosis | AMER1 |
| Osteopetrosis | CA2, SNX10, CLCN7, OSTM1, LRP5, TNFRSF11A, TCIRG1 |
| Osteoporosis | COL1A1, ADCY10, HLA-DRB1, HLA-DQB1, HLA-C, MAEL, SPARC, AR, HSPA4L, SFRP1, CNR2, TRPV4, NOS3, F5, VDR, TNF, SHBG, HLA-B, FLT3, VEGFA, CYP17A1, ESR1, ESR2, PGR, HSPA1B, HLA-DQA1, IL6, HLA-A, TNFRSF1B, NR1I2, CYP19A1, MTHFR, HSPA1L, PPARG, NR3C1, IL1A, APOE, IL1RN, IGF1, TNFRSF1A, GC, CYP1B1, CYP1A1, CA2, BGLAP, ACP1, APOB, NR5A2, STAT1, BMP4, CFTR, NRG1, RAP1A, PLS3, TGFB1, LGR4, COL1A2, LRP5, UGT2B17, PDLIM4, CALCR, MIR2861, CXCR4, DBP, BMP2, TNFRSF11A, CALCA |
| Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency | IKBKG |
| Osteoporosis-pseudoglioma syndrome | LRP5 |
| Osteosarcoma | MYC, TP53, MDM2, CDKN2A, CDKN2B, TSPAN31, HSD17B10, EGR1, PRAME, SERPINF1, CDC5L |
| Oteosclerosis | ACE |
| Other humoral immunodeficiencies | DNMT3B |
| Other phagocyte defects | LYST, SBDS, RAB27A, MYO5A, CEBPE, MPO |
| Other well-defined immunodeficiency syndromes | TBX1, TYK2, XIAP, AIRE, ITK, WAS |
| Otitis media | MUC5B, MUC4, RELA, MBL2, CX3CR1 |
| Oto-spondylo-megaepiphyseal dysplasia | COL11A2 |
| Otosclerosis | COL1A1, AGTR1, TGFB1, BMP2, AGT |
| Otospondylomegaepiphyseal dysplasia | COL11A2 |
| Ovarain reserve | FSHB |
| Ovarian aging | FMR1 |
| Ovarian cancer | KRAS, AKT2, TP53, UBE2I, SPINT1, TNF, KLK6, VEGFC, NME2, SHMT1, CHI3L1, FGF7, NME1, MBL2, MMP8, UTRN, TYMP, PECAM1, EBAG9, TBX3, KLK10, FGF2, HTRA2, NASP, ILK, ANXA7, F7, F2, ANG, SMAD4, OVCA2, HDAC3, WRAP53, SFN, CCN2, TSG101, KLK4, CRKL, TFF1, ANGPT1, PEBP1, CD59, SPDEF, FGF1, MSLN, ITGA8, JUP, CDH13, LEF1, HMGA2, TFRC, JAK1, MYO6, CLDN4, BARD1, SMAD2, FANCA, NOD2, EEF1A2, GSTA1 |
| ovarian carcinoma | SIX1, SMAD2, DUSP1, MTUS1, MMP13, LETMD1, PTK2, RHOC, EDN1, L1CAM, IL13, MAP2K1, TFF1, TIMP4, CAV1, NCOA4, NME2, KLK13, HDAC3, SOCS1, MAP2K6, CCND1, SOCS2, AKT2, CABIN1 |
| Ovarian diseases | CYP17A1, BRCA2, BRCA1 |
| Ovarian dysfunction | HSP90AA1, AMH, SHBG, FMR1, ESR1, INHBA, TNF |
| Ovarian dysgenesis | HSD17B4, FSHR, BMP15 |
| Ovarian endomerioma | PTGS2 |
| ovarian endometrial cancer | ARHGEF10L |
| Ovarian endometrial cysts | CDH1, CD44, VIM |
| Ovarian endometriomata | ESR1, ESR2 |
| Ovarian endometriosis | NGF, HLA-DRB1, HLA-G, SRC, INHA, MMP9, HSP90AA1, TNF, NR5A1, CDH1, SHBG, AXL, INHBA, FST, VEGFA, ESR1, CLOCK, ESR2, IL6, NR2F2, IL10, PTGDS, PLA2G2A, LEP, HSD17B2, PTGS2, GAS6, CYP1B1, CYP1A1, CTNNB1, TP53, BCL2, MYC, CXCL8, AKR1C3, SRD5A2, SLC26A8, PAEP, GPER1, MLH1, MMP2, BIRC5, CD44, SOX2, C3, INHB |
| Ovarian failure | INHA |
| Ovarian follicular status | AMH |
| Ovarian function | CA125, LEP, ICAM1, GDF9, BMP15 |
| ovarian germ cell cancer | SALL4 |
| Ovarian hyperandrogenism | AR |
| ovarian hyperstimulation syndrome | TFPI, SERPINF1 |
| Ovarian hyperstimulation syndrome (OHSS) | BMP15, CYP19A1, CYP11A1, CRP, VWF, FLT1, AMHR2, INHA, LHCGR, PAPPA, TNF, F5, AMH, FSHR, IL6, INHBA, VEGFA, IL1B, IL10, MTHFR, LEP, ICAM1, CXCL8, IL23A, CA125, IL12A, C3, ALB, IL7R, IL18, IL2RA, PGR, IL2, IL6R, KDR, CFTR |
| Ovarian inflammation | IL6 |
| Ovarian insufficiency | FMR1, EAP1 |
| Ovarian reserve | AMHR2, BMP15, AMH, INHBA, FSHR, LHB, BRCA1 |
| Ovarian response | AMH, INHBA, NRG1, MTHFR |
| Ovarian serous carcinoma | MAP2K4, ARHGEF10L |
| Ovarian tumorigenesis | MPG |
| Ovarian dysfunction | INSL3, IL6, IL1B |
| Ovary adenocarcinoma | CCND3, PRAME |
| ovary epithelial cancer | ASPM, SRSF3, PLK3, PLK1, PTGES, AKAP6, NME1, KIF1B, CCR3 |
| ovary serous adenocarcinoma | TP53 |
| Overhydrated hereditary stomatocytosis | RHAG |
| Ovulatory disorders | ESR2, ESR1, LHB, CSF1 |
| P14 deficiency | LAMTOR2 |
| P450c17 deficiency | CYP17 |
| Pachyonychia congenita | KRT6B, KRT6A, KRT17 |
| Paget disease of bone | TNFRSF11B, SQSTM1, ZNF687, TNFRSF11A |
| Paget's disease | PRL |
| Paget's disease of bone | SQSTM1, TNFRSF11A, TNFRSF11B, OPTN |
| Pallister-Hall syndrome | GLI3 |
| Palmoplanta pustulosis | IL10 |
| Palmoplantar keratoderma | AQP5, KRT1, GJA1 |
| Palmoplantar keratoderma type 1A | AAGAB |
| Palmoplantar keratoderma, Nagashima type | SERPINB7 |
| Palmoplantar keratosis | JUP |
| Palmoplantar pustulosis | TNF |
| Pancreas disease | MSLN |
| Pancreas divisum | CFTR |
| pancreatic acinar cell adenocarcinoma | BRAF |
| pancreatic adenocarcinoma | HRG, ADGRB1, CCND1, AKT3, MAP2K1, MAPK9, CDK6, CXCR4, JAK1, RAC1, RALBP1, RALB |
| Pancreatic agenesis | GATA6, PDX1 |
| Pancreatic cancer | SMAD4, KRAS, TP53, BAG3, APOA1, TGFA, CCKAR, BAG4, MIR107, TGFBR2, ADGRE5, RET, FGF2, CCL20, NGFR, MUC4, B3GALT5, DPYD, ALOX5, SERPINA1, SMO, PPARD, RELA, VCAM1, CACYBP, ADAM9, ANG, ANXA1, RAP1GAP, CLDN4, IL4R, ALDH1A1, CAB39, MUC6, ACVR1, EIF4A3, UCK2, PALLD, ACVR2A, THBS1, ACVR1B, PTCH1, MGAT4A, IL13, ABCC5, MKI67, SMAD2, IL3, MTAP, MSLN, PDGFRA, SNCG, BUB1B, CAP1, AGER, CCR4, FSCN1, ABCC3, INS, CCND1, HSPB1, EPHA3, FANCC, FANCG, HS3ST2, BID, MEN1, SPP1, NAP1L1, TYMP, SEL1L, RECQL, RRM2, IL13RA2, BRAF, BCL2L1, L1CAM, ITGA9, POLB, PALB2, RAD54L, ABO, VHL, APC, NAT1, WNT9A, ILK, ALDH2, ITGA11, FANCA, UGT1A7, MAP2K4, XRCC2, SMAD3, MANF, LIG3, SNW1, MPO, CAPN10, ARPC1A, XRCC3, ERCC4 |
| pancreatic carcinoma | CDKN1A |
| pancreatic ductal adenocarcinoma | JAK1, RALA, RAC1, CCND1, SMAD2, AKR7A2, PIK3CG, PLD1, PIK3R2, GOT1 |
| pancreatic ductal carcinoma | CD40, CALR, PALLD, CLDN4, TSC2, CCND1, CBX7, TYMP, CCKAR, FSCN1, TGFBR2, MEN1, MUC4, KRT7, INS, FGF2, TMPRSS3, ADAM8, L1CAM, ADAM9, ANXA8, SERPINA1, RNF2, CDKN1A, SMAD4, IL4R, APOC1, AGR2, MCM7, THBS1, NME1, MSLN, PMS1, VHL, CDK6, HEATR1, SMO |
| pancreatic intraductal papillary-mucinous neoplasm | TP53 |
| Pancreatic lipase deficiency | PNLIP |
| Pancreatic mucinous cystadenoma | KRAS |
| Pancreatic neuroendocrine tumor | ATRX, MEN1 |
| pancreatic solid pseudopapillary carcinoma | CCND1 |
| Pancreatitis | MGST1, HLA-DQB1, HLA-B, SOD2, TGFB1, CAT, MIF, SPINK1 |
| pancytopenia | FANCC |
| Panic disorder | SOD2, LDHA, COMT, TSPO, HTR2A, PGR, BDNF, CLU, CREM, NTRK3, TPH2, MBL2, CRH |
| pantothenate kinase-associated neurodegeneration | SNCA, SNCG |
| papillary carcinoma | VEGFC |
| Papilloma | CDKN1A |
| Papillon-Lefevre disease | CTSC |
| Papillon-Lefevre syndrome | CTSC |
| Papillorenal syndrome | PAX2 |
| Paraganglioma | SDHB, SDHC, SDHD |
| Paragangliomas 4 | SDHB |
| Paragangliomas 5 | SDHA |
| Paramyotonia congenita | SCN4A |
| paranasal sinus neoplasm | ANXA1, TP53 |
| Paraneoplastic syndromes | HLA-DRB1, HLA-DQB1, HLA-B, HLA-A |
| paranoid schizophrenia | HSPA1A, KCNN3 |
| Paraparesis | HLA-DRB1, HLA-C, HLA-DQB1, HLA-B, KIR2DL2, HLA-A, KIR2DS2, IL10 |
| Parastremmatic dwarfism | TRPV4 |
| Parathyroid carcinoma | CDC73 |
| Parkes Weber syndrome | RASA1 |
| Parkinson | PARK7 |
| Parkinson disease | ADAMTS16, NAT2, NFE2L2, PAK1, NOS2, HTR2A, HLA-DRA, PDXK, DECR1, HSPA1A, HLA-DQA1, APOE, ATP6, IL1RN, ACE, ABCB1, CYP1A1, CYP1B1, GFPT2, GABBR2, TLR4, MTRR, CXCL8, IGF2, CBS, BMP4, ZNF313, MT-CO1, OGG1, EPHX2, GSK3B, AMY2A, A2M, ICAM1, NFKB1, COMT, USP24, STK39, MAPT, NOS3, OTX2, TNF, FMR1, RNF114, VDR, HSPA1B, ESR1, BDNF, PACRG, PON1, IL6, MTHFR, ESR2, IL1B, HSPA1L, IL2, SOD2, PTGS2, HFE, SERPINA3, TNFRSF1A, GSTT1, GSTP1, GSTM1, GSTM3, POLG, PARP1, CTSD, SHH, WFS1, PANK2, HSPA9, CDC42, NBN, B2M, TOR1A, TARDBP, BAD, FYN, CYP1A2, AKT1, IFNG, HSPA5, HMOX1, IL10, CYP19A1, IL1A, IL4, BAX, MTR, EIF4G1, UCHL1, PLA2G6, PARK7, GBA, CHCHD2, SNCA, PRKN, HTRA2, ATP13A2, PINK1, NR4A2, GIGYF2, FBXO7, VPS35, LRRK2 |
| Parkinson's disease | LRRK2, SLC18A2, ABL1, MIR29B1, DRD3, NTSR1, PPARGC1A, AGTR1, MIR132, APOA1, MIR1-2, SRRM2, TH, NEDD8, NGFR, PPP2CA, CAST, PRKN, GRN, HSPA8, SNCG, DBH, NDUFB8, MT-ND1, SNCA, MIR19B1, HBB, GRK5, AFDN, CRH, EIF2AK2, GDF5, TCN2, GRK6, EPO, DDC, HTT, S100B, HMGCR, HTRA2, GSTO1, ATP13A2, FBXO7, NQO2, SEPTIN14, MAPT-AS1, NDUFV2, NR4A2, GSTO2, VPS35, KLK6, TFAM, PHACTR2, HNMT, DNAJC6, EN1, PINK1, EPHX1, SYNJ1, ANG |
| Parkinsonian syndrome | SYNJ1, SNCA, PRKN, VPS13C, ATP13A2, PINK1, LRRK2 |
| Paroxysmal nocturnal hemoglobinuria | PIGA, CXCR4 |
| Partial androgen insensitivity syndrome (PAIS) | AR, NR5A1, LHB, FSHB, AMH, LH |
| Partial breast development | FSHB |
| Participates in prostatic bud patterning by restricting mouse ventral prostate development | WNT5A |
| Participates in the assembly of complexes in the Fibrous sheath | CABYR |
| Partington syndrome | ARX |
| Patent ductus arteriosus | MYH11, PRDM6, ACTA2 |
| Patient sought infertility evaluation after his partner had a miscarriage | USP9Y |
| Pattern dystrophies of the retinal pigment epithelium | CTNNA1, MAPKAPK3, PRPH2 |
| Patterned macular dystrophy | PRPH2, HTRA1 |
| PEBAT | TBCD |
| Peeling skin syndrome | TGM5, CSTA, SERPINB8, CHST8 |
| PEHO syndrome | ZNHIT3 |
| PEHO-like syndrome | CCDC88A |
| Pelger-Huet anomaly | LBR |
| Pelvic adhesions | TNF, IL1B, IL6 |
| Pelvic endometriosis | CXCL10, CCL11, HGF, IL11, CA125, IL6, IL10, LEP, IL4, IL2, ICAM1, SAA1, CYP19A1, CYP2B6, HSD17B2, CRP, MMP2 |
| Pelvic inflammatory disease (PID) | HLA-DQB1, HLA-DQA1, TLR4, TLR2 |
| Pelvic pain with endometriosis | UCHL1 |
| Pemphigus | MBL2, CD40, CD36, CAST |
| Pemphigus vulgaris | HLA-C, HLA-B, TNF, HLA-DQA1, HLA-A, TGFB1, TP53, BAX, HLA-DQB1, IFNG, IL1B, IL10, IL6, IL4, IL2, IL1A, IL1RN, IL12A |
| Penile cancer | PTGES2, HRAS, TP53 |
| Penile hypospadias | AR |
| penile neoplasm | CCND1, PTGES |
| Penoscrotal hypospadias | CYP11A1, NR5A1 |
| Pentosuria | DCXR |
| Perceptual disorders | APOE |
| Perianal disease | SLC22A5 |
| periapical granuloma | CCL7, CCR3 |
| Periapical periodontitis | IL1B |
| Perineal hypospadias | AR |
| Periodic paralysis | KCNJ2, SCN4A, KCNE3 |
| Periodontal disease | NOS3, TNF, IL1B, IL10, IL6, IL1A, IL1RN, TLR4, TLR2, TGFB1 |
| Periodontitis | TNF, TLR4, MMP9, MMP2, COL1A1, HLA-C, HLA-DQB1, AGTR1, VDR, HLA-B, SERPINE1, TNFRSF1B, FPR1, PLAT, IL1B, IL6R, IL1RN, ICAM1, EGF, ACE, CCR5, TGFB1, TLR2, IL1R2, CCL5, GNRH1, TIMP2, CSF1, CTSD |
| Peripheral arterial disease | HIF1A, APOB |
| Peripheral artery disease | NPY5R, NPY, ADIPOQ, NPY1R, P2RY12 |
| Peripheral nervous system disease | MT-ND1 |
| Peripheral nervous system diseases | CYP1A1, GSTT1, GSTP1, GSTM1, ERCC1 |
| Peripheral T cell lymphoma | DUSP22, ALK, IDH2, TET2 |
| Peripheral vascular disease | NOS3, F5, MMP9, ESR1, MTHFR, ESR2, IL6, IL1B, ICAM1, ACE, CYP19A1, HFE, SRD5A1, SRD5A2, MYB, TNFRSF11B, APOH, MBL2, LIPC |
| Peritoneal adhesions | CSF1 |
| Peritoneal endometriosis | NFKB1, NGF, HLA-G, TRPV1, HMOX1, PRL, CA125 |
| Peritoneal, ovarian and bowel endometriotic tissues | MMP2, TIMP2 |
| Peritoneal, ovarian, and deeply infiltrating endometriosis | PGR |
| Peritoneal, rectovaginal and ovarian endometriosis | MMP2 |
| periventricular leukomalacia | TNF |
| Periventricular mental retardation | IL6 |
| Periventricular nodular heterotopia | ARFGEF2, NEDD4L, ERMARD |
| Perlman syndrome | DIS3L2 |
| Permanent neonatal diabetes mellitus | GLIS3, PDX1, GCK, INS, ABCC8, EIF2AK3, PTF1A |
| Pernicious anemia | CBLIF |
| Peroxisomal acyl-CoA oxidase deficiency | ACOX1 |
| Peroxisomal beta-oxidation enzyme deficiency | HSD17B4, SCP2, AMACR, ACOX1 |
| Peroxisomal fatty acyl-CoA reductase 1 disorder | FAR1 |
| Peroxisome biogenesis disorder | PEX10, PEX2, PEX7, PEX19, PEX26, PEX13, PEX5, PEX12, PEX3, PEX14, PEX1, PEX16 |
| Perrault syndrome | HSD17B4, CLPP, ERAL1, HARS2, LARS2 |
| Persistent fetal circulation syndrome | CPS1 |
| Persistent mullerian duct syndrome | AMH, AMHR2 |
| Persistent truncus arteriosus | GATA6 |
| Personality disorder | TPH1 |
| Perthes' disease | F5 |
| Peters anomaly | CYP1B1, B3GLCT |
| Peutz-Jeghers syndrome | STK11 |
| Peyronie's disease | SERPINA1 |
| Pfeiffer syndrome | NR0B1, FGFR2, NR5A1, FGFR1 |
| Phallic hypoplasia/clitoromegaly | NR5A1 |
| Phelan-McDermid syndrome | SHANK3 |
| Phenylketonuria | PAH, PTS, QDPR, GCH1, PCBD1 |
| Pheochromocytoma | GDNF, L1CAM, HSD17B10, VHL |
| Pheochromocytomas | SDHB |
| Phlebitis | F5, MTHFR |
| Phobic disorder | HRAS |
| Phosphoribosylpyrophosphate synthetase superactivity | PRPS1 |
| Phosphoserine aminotransferase deficiency | PSAT1 |
| Phosphoserine phosphatase deficiency | PSPH |
| Photosensitivity disease | ELN |
| Pick's disease | MAPT, HNMT, SNCA, ATF2, FOS, MAP2K6 |
| Piebaldism | SNAI2, KIT |
| Pierpont syndrome | TBL1XR1 |
| PIGM-congenital disorder of glycosylation | PIGM |
| Pigmented micronodular adrenocortical disease | PRKAR1A, PDE11A, PDE8B |
| Pigmented paravenous chorioretinal atrophy | CRB1 |
| Pilomatricoma | CTNNB1 |
| Pitt-Hopkins syndrome | NRXN1, CNTNAP2, TCF4 |
| Pituitary adenoma | AVPR1B, GRK2 |
| Pituitary adenomas | PRKAR1A, AIP, MEN1, CDKN1B, GPR101 |
| Pituitary dwarfism | GH1, SOX3, PROP1 |
| Pituitary gigantism | GPR101 |
| Pituitary hormone deficiency | PROP1 |
| Pityriasis rosea | HLA-DRB1, HLA-DQB1, HLA-C, HLA-B, HLA-A |
| Pityriasis rubra pilaris | CARD14 |
| Placenta diseases | NOS3, SERPINE1, MTHFR, F5, PLAT, IL4, PTGS2, PLAUR, MTRR, PlGF, FASLG |
| Placental abruption | PROC |
| Placental insufficiency | EPO |
| Plasma cell leukemia | CD40 |
| Plasma fibronectin deficiency | FN1 |
| Plasminogen activator inhibitor-1 deficiency | SERPINE1 |
| Plasminogen deficiency | PLG |
| Platelet aggregation | JMJD1C, NOS3, NR0B1, IL1R2, DYNC2H1, SHH |
| Platelet-type bleeding disorder 16 | ITGB3, ITGA2B |
| Platelet-type bleeding disorder 3 | GP1BA |
| Platelet-type von Willebrand disease | GP1BA |
| Play a role in male germ cell development | CREB3L4 |
| Play a role in physiologic functions of sperm cells | IL1A |
| Play a role in sperm differentiation | SLY |
| Play an important role in early phase of spermatogenesis | MAGEA1, MAGEA4 |
| Play key roles in the coordinated regulation of testicular germ cell homeostasis | IGFBP3 |
| Play roles in spermatogenesis by interacting with c-Src and/or other protein | PTPN21 |
| Play roles in spermatogenesis by interacting with c-Src and/or other protein(s) | PTPN21 |
| Plays a crucial role in regulating male infertility | HGF |
| Plays a crucial role in speramtogenesis | TBL1XR1, SLY , DAPK3, TCP10L, EIF2S3Y, TEX14, SOX30, FOXR1, HMGB4, ZNF597, 1700019N19Rik, MIR30A, MIR140, Tcte3, ASB4, RICTOR, SPATA46, CAPZA3, USP42, SPATA31A7, LY6K, Tex19.1, GGN, SPESP1, RFX2, MEA1, GPX5, KNL1, TMEM30CP, TDRP, GPAT4, TSARG7 |
| Plays a diverse and important biological role in spermatogenesis | GPX4 |
| Plays a key role in differentiation of spermatogonial stem cells | EIF2S3Y |
| Plays a key role in regulating gene expression or modulating nuclear events during mammalian spermatogenesis | TEX14 |
| Plays a regulatory role in fetal testis development | SPARC |
| Plays a role during embryogenesis and adult spermatogenesis | SOX30, FOXR1 |
| Plays a role during spermiogenesis and fertility | HMGB4, FAM71B |
| Plays a role during spermiogenesis and fertility, Male infertility | 1700019N19Rik |
| Plays a role in acrosome development | MAP3K11, CRISP2 |
| Plays a role in alternative splicing which is critical for male germ cell development and male infertility | RANBP9 |
| Plays a role in attainment of sperm functional competence | NSUN4, CRISP2 |
| Plays a role in early maturation of the testis | UBE2D2 |
| Plays a role in early stage of spermatogenesis | MIR140, MIR21, MIR30A, MIR99B |
| Plays a role in generation of sperm motility as well as in male germ cell differentiation | Tcte3 |
| Plays a role in mammalian testis development and spermatogenesis | ASB4 |
| Plays a role in mediating spermatid-Sertoli adhesion during mouse spermatogenesis | FNDC3A |
| Plays a role in meiotic and post-meiotic stages of male germ cell development | NANOG |
| Plays a role in normal flagellar structure, motility and fertility | SLC22A14 |
| Plays a role in normal sperm function | TRPM8, CRISP4 |
| Plays a role in normal spermatogenesis | RICTOR |
| Plays a role in preventing oxidative disruption of spermatogenesis | NRF2 |
| Plays a role in proper progression of spermatogenesis by regulation of cofilin activity and/or localization in germ cells | LIMK2 |
| Plays a role in reshaping of the sperm head | SPATA46 |
| Plays a role in sperm function | BSPH1 |
| Plays a role in sperm morphogenesis and/ or sperm function | Capza3 |
| Plays a role in spermatogenesis | UBR2, SPATA31A7, AMY1A, Tex19.1 |
| Plays a role in spermatogenesis and development of testicular germ cells | FYN |
| Plays a role in spermiogenesis | RFX2 |
| Plays a role in spermiogenesis by regulating DLC1 phosphorylation | PAK1 |
| Plays an active role in translational repression of several mRNAs in differentiating spermatids | Ybx3 |
| Plays an earlier structutal role during spermatogenesis | ZPBP |
| Plays an essential role in maintenance of the processes of glycolysis and ATP production in the flagellum that are required for male fertility and sperm function | LDHC |
| Plays an important metabolic role in sperm capacitation | LDHC |
| Plays an important role in acrosome reaction | TRIM36 |
| Plays an important role in apical ectoplasmic specialization dynamics during spermatogenesis | ICAM2 |
| Plays an important role in capacitation possibly providing a link between protein phosphorylation and cholesterol efflux | NAXE |
| Plays an important role in dynamic regulation of acrosome biogenesis during late spermiogenesis | MORN2 |
| Plays an important role in flagella formation during spermiogenesis as well as being implicated in sperm motility | TEKT5 |
| Plays an important role in germ cell formation, including nucleoplasmic transport and nucleus shaping by manchette microtubules | NDEL1 |
| Plays an important role in lipid transport in Sertoli cells and influences male fertility | ABCA1 |
| Plays an important role in mammalian spermatogenesis and/or testis development | MEA1 |
| Plays an important role in spermatogenesis | TDRP, TMEM30CP |
| Plays an important role in spermatogenesis and is important for survival of germ cells at spermatocytes stage onward | AGTPBP1 |
| Plays an important role in spermatogenesis and sexual maturation | TSARG7 |
| Plays an important role in spermatogenesis, especially in mid-meiosis | GPAT4 |
| Plays an important role in spermatogenesis, maintanence of acrosome | KNL1 |
| Plays an important role in testis during development | SPAG9 |
| pleomorphic xanthoastrocytoma | TSC1, BRAF |
| Pleurisy | IL15, CSF3 |
| Pleuropulmonary blastoma | DICER1 |
| Pneumocystosis | CCL2 |
| PNPLA6-related disorders | PNPLA6 |
| Poikiloderma with neutropenia | USB1 |
| POLG related disorders | POLG |
| Polyangiitis | HLA-DRB1, HLA-DQB1 |
| Polyarteritis nodosa | FGF2, ELN |
| Polyarthritis | MIF |
| Polycystic kidney disease | DKK3, AGTR1, NOS3, ACE, TGFB1, EGFR, GANAB, PKD1, DNAJB11, PKD2, DZIP1L, PKHD1, GPBAR1 |
| Polycystic liver disease | SEC63, PRKCSH, HDAC6, LRP5 |
| Polycystic ovarian disease (PCOD) | INSR |
| Polycystic ovary syndrome | NCOA4, ADIPOQ, PECAM1, CAPN10 |
| Polycystic ovary syndrome (PCOS) | LHCGR, NOS3, SERPINE1, F5, HLA-A, FSHB, CYP11B2, PLAU, MTR, LEPR, GSTT1, GSTM1, AKR1C3, PLIN, STK11, PON1, FSHR, CYP17A1, PRDX4, FOXO1, SULT2A1, HSD17B2, CXCL8, IGF1R, GSK3B, GNAS, HSD3B1, SRD5A2, APOB, CTSD, TNFRS11A, AMHR2, NCOR1, NFKB1, HLA-DRB1, COMT, COL1A1, TNF, PON-1, HLA-G, LMNA, NOS2, MAS, MUC1, ERBB4, AR, AT1, VWF, SPARC, MST1, LCN2, FLT1, CST3, BGLAP, ADRB2, KISS1, ANXA6, APOA1, MAK, PAPPA, HGF, RB1, BMP7, MMP2, MMP9, AMH, PRKAA1, MIR133A1, TF, ETV5, PCLAF, HSPB1, UCLH1, JUN, PSAT1, INSR, MIRLET7I, BMP15, GDF15, MIR34C, AQP8, PAFAH1B2, MIR21, APOA4, CYP11A1, HSD17B5, RIP140, INHA, MEF2A, CYP19A1, SHBG, IGFBP3, ICAM1, DDX4, LIF, IL11, ASP, PLAT, ITGAV, TGFA, PRL, INHBA, HLA-B, VEGFA, F3, FST, FTO, FASLG, NR1H3, BAD, PGR, IFNG, HLA-DQA1, TNFRSF1B, AHSG, FKBP4, IL6, BDNF, INSL3, CRP, IL1B, ESR2, ESR1, HMOX1, SERPINA1, SRD5A1, CYP21A2, IL10, PTEN, PPARG, NR3C1, VDR, LEP, APOE, IL6R, IL2, IL7R, IL1A, IL18, HSPA4, IGF1, PAEP, EGF, CYP2B6, CYP1A1, HFE, PTGS2, TGF-alpha, TLR2, TGFB1, CYP1B1, AGTR1, ABCA1, |
| Polycystic ovaries (PCO) | GSTT1 |
| Polycythemia | ACE, EPOR, EPAS1, VHL, HBB, EGLN1 |
| Polycythemia vera | JAK2, EPOR, CD36, BCL2L1 |
| Polydactyly | GLI3 |
| Polydipsia | CYP1A2, ACE |
| Polyendocrinopathies | HLA-DRB1, HLA-DQB1, TNF |
| Polyhydramnios | LNPEP |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | STRADA |
| Polymicrogyria | ADGRG1, TUBA8, TUBB2B, EOMES, PI4KA |
| Polymyalgia rheumatica | NAT2, IL1RN, CCR5, ICAM1, PECAM1, MBL2 |
| Polymyositis | HLA-DQB1, HLA-DRB1, TNF |
| Polyneuropathies | HLA-DRB1 |
| Polyneuropathy | APOA4, SOD3 |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | ABHD12 |
| Polysyndactyly | GLI3 |
| Polyzoospermia | B2M, SOD1, ALB, TF |
| Pontocerebellar hypoplasia | VRK1, TOE1, AMPD2, CHMP1A, SEPSECS, EXOSC3, EXOSC8, VPS53, RARS2, TSEN15, TSEN2, CLP1 |
| Poor developmental outcomes for human oocytes after in vitro maturation | SIRT3 |
| Poor drug metabolism | CYP2C19, CYP2D6 |
| Poor fertilizing capacity, abnormalities of spermiogenesis | PRM2 |
| Poor oocyte yield | LHCGR |
| Poor semen quality | FAS, CASP8, AR |
| Poor sexual development | NR5A1 |
| Poor sperm morphology | DPF3, DSCAML1 |
| Poor sperm motility | PRL, TOP2A, RANGAP1, SUMO1, DNM1L, DRP1 |
| Poor ovarian reserve (PR) | FSHR, AMH, AT2R, AGTR1 |
| Poor ovarian response (POR) | BMP15, FSHR, PAPPA, CYP19A1, AMH, IL6, TLR4, TLR2, CXCL8, AR, MIF |
| Popliteal pterygium syndrome | IRF6 |
| Porencephaly | COL4A1, COL4A2 |
| Porokeratosis | PMVK, MVD, MVK, SLC17A9 |
| Porphyria | CYP1A2, HFE, PPOX, FECH, UROD, HMBS, ALAD, UROS, EPO |
| Porphyria cutanea tarda | UROD, ALAD |
| Portal hypertension | CPEB4, CCL2, ARRB2, PRKCD, VASH1, JAK2 |
| Portal vein thrombosis | F2 |
| Possible role in sperm formation | RNF32 |
| Post testicular sperm maturation | AR |
| Post-meiotic sperm morphogenesis | CUL4B |
| Post-testicular obstruction | PTGDS |
| Post-testicular obstruction | PTGDS |
| Postaxial polydactyly | GLI3, ZNF141, CIBAR1, GLI1, IQCE, C5orf36 |
| Posterior column ataxia with retinitis pigmentosa | FLVCR1 |
| Posterior cortical atrophy | APOE |
| Posterior hypospadias | NR5A1 |
| Posterior polymorphous corneal dystrophy | OVOL2, ZEB1, COL8A2 |
| Posterior polymorphous corneal dystrophy 1 | VSX1 |
| Posterior urethral valves, congenital ureteropelvic junction obstruction | HNF1B |
| Posterior urethral valves, congenital ureteropelvic junction obstruction | HNF1B |
| Potassium-aggravated myotonia | SCN4A |
| Potential to regulate transcription during spermatogenesis | ZSCAN21 |
| Potter syndrome | GANAB, PKD1, PKD2, FGF20, PKHD1, ITGA8 |
| Prader-Willi syndrome | AR, SNRPN, NDN, HCRT |
| Prader-Willi syndrome individuals | AR |
| Pre-eclampsia | EBAG9, CYP2J2, UTS2, HP, SERPINA1, EPAS1, ADD1, ENG, CCN3, CD40, SERPINF2, CHI3L1, TFPI, PROC, STOX1, AGT, EPHX1, TNF, F2 |
| Pre-malignant neoplasm | SFTPD |
| Pre-mrna splicing and spermatogenesis | MRG15 |
| Preaxial polydactyly | GLI3, LMBR1, GLI1 |
| Precocious pseudopubarche | CYP11B1 |
| Precocious puberty | HSD17B5, KISS1, SERPINE1, NR3C1, CYP21A2, HSD3B2, IGF1R, ESR1, KISS1R, CYP11B1, HSD3B1, LHCGR |
| Precursor Cell Lymphoblastic Leukemia-Lymphoma | DAXX |
| Prediabetes syndrome | PTPRN2, UCP3 |
| Preeclampsia | NAT2, MMP9, IL10, HLA-G, COMT, COL1A1, TNF, HLA-DRB1, HLA-DQB1, NOS2, SLC9A3, CLU, NOS3, AGTR1, TGFA, IFNG, HLA-DQA1, HSPA1A, ANXA5, HSPA1B, SERPINE1, H19, HLA-A, ESR2, PPARG, ESR1, IL6, IL4, HSPA1L, IL1B, LEP, APOE, FAS, FLT1, FASLG, FSHR, F5, IL1RN, CYP11B2, EGF, CYP17A1, PON1, SLC22A5, SOD2, ACE, IL1A, MTRR, INSR, IL5, MTR, TLR4, HIF1A, IGF1, TLR2, LEPR, APEX1, GSTT1, GSTP1, GSTM1, EDNRA, ERCC2, CYP1A1, XRCC1, LIPE, SOD1, MTHFR, TGFB1, NFKB1, AP1, PAPPA, Hsp60, MCP, VWF, VEGFA, IL18, HMOX1, PlGF, IL12A, GPX4, CRP, CAT, WNT5A, STAT1, AMH, CFTR, FOXP3, HSPA4 |
| Pregnancy complications | NR1I2, MTHFR, SOD2, GSTM1, GSTT1, GPX1, CAT |
| Pregnancy failure | ADM, AMH |
| Pregnancy loss | ND4, ACHE, KIR2DL2, SERPINC1, ANXA5, PGR, MT-CO3, KIR2DS2, HLA-A, CYTB, FLT1, CCR5, TP53, SERPINA1, MTHFD1, MDM2, TLR4, H19, CYP1B1, CGB3, AR, IGF2, SYCP3, IL2RA |
| Pregnancy outcome | VEGFA, KDR, GDF9 |
| Pregnancy rate | SPTRX3 |
| Pregnancy-associated venous thromboembolism | F5 |
| Preimplantation embryonic lethality | PADI6, TLE6 |
| Premature adrenarche | TNF, IL6 |
| Premature birth | TNF, IL6R, IL2, IL1B, ICAM1, IL1RN, IL1A, GSTT1, GSTM1 |
| Premature mammary gland differentiation | MAT |
| Premature menopause | BRCA1 |
| Premature ovarian failure | MCM8, DIAPH2, ERCC6, POF1B, FOXL2, FIGLA, FANCA, BBS9, NR5A1 |
| Premature ovarian failure (POF) | NAT2, SHBG, GSTT1, ND4, ESR1, AR, MT-CO3, BDNF, LHCGR, ATP6, ATP8, BMP15, TAF4B, MSH4, AMHR2, GSTM1, ESR2, PRLR, CYP2B6, CYP19A1, MT-CO1, SPO11, DAZL, HSD17B4, KIT, TERT, NANOS3, HLA-DRB1, HLA-DQB1, INHBB, ACTB, FMR1, FSHR, STAG3, KLK3, SPANXA1, MIR22, SOHLH2, ADAMTS16, PACAP, MIR146A, MIR196A2, TGFBR3, NR5A1, PCMT1, ENO1, CGA, HSPA5, TNF, HLA-DQA1, MTHFR, PTEN, BMPR2, HSD3B1, VEGFA, FSHB, LEP, KDR, INHBA, IGF1, CYP11A1, GDF9, IGF2R, SULT2A1, WT1, AMH, PAFAH1B2, LHB, BNC1, SYCE1, COL1A1, MSH5, INHA |
| Premature ovarian insufficiency (POI) | NR5A1, NANOS3, IL17RB, BMP4, FSHR, COMT, BMP15, TGFB1, NR5A2, IL10, IL6, FMR1, HLA-DRB1, NOS2, AT1R, AMHR2, SOHLH1, MMP2, SYCE1, MT-CO1, DROSHA, STAG3, TNF, PTEN, ATP6, SAA1, INHA, INHBA, FSHB, GDF9, ACE, CRP, POLG, AMH, DICER1, SERPINE1 |
| Premature pubarche | HSD3B2 |
| Premature rupture of membranes | TLR4 |
| Premenstrual dysphoric disorder | COMT, ESR1 |
| Prepubertal periodontitis | CTSC |
| Preretinal fibrosis | TIMP3 |
| Presbycusis | GJA1 |
| Presence of sperm in azoospermic patients | INHBA, INHB |
| Preserved fertility | NR5A1 |
| Preterm birth risk | IFNG, PGR, IL10, IL6, MMP9, NOS3, TNF, TNFRSF1B, IL6R, IL2, PON2, IL1B, VEGFA, TNFRSF1A, TGFB1, PON1, IL1A, TLR4, TLR2, GSTT1, GSTM1, CYP1A1, HSPA4, HSPB1, PRDX1, TF, VIM |
| Preterm premature rupture of the membranes | TFPI |
| Prevalent fractures | COL1A1 |
| Prevalent vertebral fractures | TGFB1 |
| Priapism | NOS3, ITGAV, TGFBR3 |
| Primary aldosteronism | KCNJ5, ATP2B3, CACNA1H, ATP1A1, CACNA1D |
| Primary amenorrhea | AR, FSHB, HSD17B3, FSHR, NR5A1, GDF9, CYP17A1 |
| Primary amenorrhoea | LHB |
| Primary and secondary Sertoli-cell-only (SCO) syndrome | INHBA |
| Primary and secondary amenorrhea with hypergonadotropic hypogonadism | FSHR |
| primary angle-closure glaucoma | ANAPC2 |
| Primary autosomal recessive microcephaly | MCPH1, WDR62 |
| Primary autosomal recessive microcephaly 1 | MCPH1 |
| Primary autosomal recessive microcephaly 2 with or without cortical malformations | WDR62 |
| Primary autosomal recessive microcephaly 3 | CDK5RAP2 |
| Primary bile acid malabsorption | SLC10A2 |
| Primary biliary cirrhosis | HLA-DRB1, HLA-DPB1, HLA-DQA1, IL1RN, IL1B, IL10, HLA-B, HLA-A, TNF, HLA-DQB1, NOS3, VDR, IL12A, IGF1, NR1I2, IL6, TLR9, HAMP, MUC2, CDKN1A, NR1H4, KRT18, MIR223, CPEB4, ENTPD2, IL12RB1, NUP62, LBR, ABCB4, CTLA4, UTP4 |
| Primary blepharospasm | TOR1A |
| Primary central nervous system lymphoma | CD79B, MYD88, CARD11 |
| Primary ciliary dyskinesia | PIH1D3, RSPH1, DNAJB13, CCDC103, NR3C1, CYP21A2, CYP19A1, CYP11B1, HSD3B2, DNAH11, NME8, DNAI1, DNAH5, SPAG1, LRRC6, RSPH3, TTC25, ARMC4, DNAAF1, CCDC65, CFAP300, CFAP298, DNAAF3, RSPH9, DNAAF4, HYDIN, DNAL1, DNAI2, ZMYND10, CCDC114, DNAAF2, DRC1, GAS8, CCNO, CCDC40, DNAAF5, OFD1 |
| Primary ciliary dyskinesia (PCD) and male infertility | DNAAF6 |
| Primary congenital glaucoma | CYP1B1, LTBP2 |
| Primary dystonia | SLC2A1, TOR1A, PRRT2, THAP1, SGCE, PRKRA, SPR, PNKD, HPCA, ATP1A3, GNAL, TAF1, GCH1, KCTD17, TH, COL6A3, CACNA1B, KMT2B |
| Primary failure of tooth eruption | PTH1R |
| Primary follicle recruitment | BMP15, AMHR2 |
| Primary gonadal failure | MCM8 |
| Primary hyperammonemic disorders | SLC25A13, CPS1, ASS1, SLC25A15, ASL |
| Primary hyperchylomicronemia | LPL, GPIHBP1, APOA5, LMF1 |
| Primary hyperoxaluria | GRHPR, AGXT |
| Primary hyperparathyroidism | GCM2, CDC73, MEN1 |
| Primary hypertrophic osteoarthropathy | HPGD, SLCO2A1 |
| Primary IgA nephropathy | HLA-DQB1 |
| Primary immunodeficiency disease | GATA2, FOXN1, IFNGR1, LIG1, CTLA4 |
| Primary infertility | GH1, TNF, LEP, CYP11B1, CDH1, MTRR, MTR, HSPA1B, HSPA1L, DNAH1, MTHFR |
| Primary infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) | DNAH6 |
| Primary intraosseous vascular malformation | ELMO2 |
| Primary localized cutaneous amyloidosis | OSMR, IL31RA |
| Primary microcephaly | CEP135, KNL1, CENPE, NUP37, PHC1, COPB2, CIT, NCAPD3, CDK5RAP2, KIF14, ASPM, NCAPH, MCPH1, ZNF335, WDR62, MAP11, ANKLE2, CDK6, MFSD2A, WDFY3, SASS6, STIL, NCAPD2 |
| Primary open angle glaucoma | OPTN, NTF4, WDR36, ASB10, MYOC, EDN1, OPA1, MBL2, ELN, CAV1, CDKN1A, ADIPOQ, TP53, CAV2, TNF, ADRB2 |
| Primary open-angle glaucoma | NOS3, IL1B |
| Primary or secondary amenorrhea | PRL |
| Primary ovarian insufficiency | NR5A2 |
| Primary progressive aphasia | MAPT |
| Primary progressive multiple sclerosis | BCHE, GRN, IL4R, ADAMTS14 |
| Primary sclerosing cholangitis | HLA-B, TNF |
| Primary seminiferous tubule failure | GJA1, CLDN11 |
| Primary seminiferous tubule failure | GJA1, CLDN11 |
| Primary severe spermatogenetic failure | AR |
| Primary spermatogenetic failure | AR |
| Primary spermatogenic defects | NR0B1 |
| Primary spermatogenic failure | DAX1, SLC26A8 |
| Primary testicular failure | CFTR |
| Primary unexplained infertility | sgp130, ITGA4, LIF, HLA-G, IL6R, IL6, FOXP3 |
| Primary unexplained infertility | gp130 |
| Primaryautosomal recessive microcephaly | ASPM |
| Primary amenorrhea | LHCGR, NR5A1, CYP17A1, LHR |
| Primary ovarian insufficiency | NR5A1 |
| Primary ovarian insufficiency (POI) | HLA-C, HLA-DQB1, HLA-B, HLA-A |
| Primrose syndrome | ZBTB20 |
| Prinzmetal angina | KL |
| Prion disease | PRNP |
| Prion Diseases | SEMA3A |
| Problems in fetal testis morphogenesis and spermatogenesis maintenance | MAFB |
| Processed during epididymal maturation and acrosome reaction and that it may play a role during sperm-egg binding | ADAM15 |
| Production of granulosa cells | MTHFR |
| Progesterone resistance | PGR |
| Progression of mammalian spermatogenesis | DICER1 |
| Progression of mammalian spermatogenesis and male infertility | DGCR8 |
| Progressive cardiac conduction defect | TRPM4, SCN5A |
| Progressive external ophthalmoplegia | POLG, SLC25A4, RRM2B, POLG2 |
| Progressive familial intrahepatic cholestasis | TJP2, NR1H4, ABCB4, ATP8B1, ABCB11 |
| Progressive familial intrahepatic cholestasis 2 | ABCB11 |
| Progressive motility | AQP7, IGF1, ADM, GAA, A2M |
| Progressive myoclonic epilepsy | SCARB2, CSTB, PRDM8, KCTD7, PRICKLE2, GOSR2, LMNB2, CERS1, KCNC1, EPM2A, PRICKLE1 |
| Progressive myoclonus epilepsy | OPTN, EPM2A |
| Progressive osseous heteroplasia | GNAS, SPP1 |
| Progressive pseudorheumatoid dysplasia | CCN6 |
| Progressive supranuclear palsy | MAPT, MAP2K6 |
| Prohormone convertase 1/3 deficiency | PCSK1 |
| Prolactinoma | HPGD |
| Prolidase deficiency | PEPD |
| Proliferation of male germ cells | SMAD2 |
| Proliferative diabetic retinopathy | NOS3, MTHFR |
| Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | FLVCR2 |
| Promotes proliferation of spermatogonial progenitor cells and spermatogenesis in mice | CIP2A |
| Propionic acidemia | PCCA, PCCB |
| prostate adenocarcinoma | TMPRSS2, NFKBIA, PDGFA, PDGFRA, ILK, RELA, PAM, BIN1, GRB2, IKBKB, BRAF, AKT2, AKT3, ADIPOQ, ADIPOR1, FGF2 |
| Prostate cancer | NKX3-1, ELK4, CDKN1B, ETV1, ERG, ETV4, EAF2, TCF7, CBX3, BMP6, FGF7, HTRA2, ERBB3, WFDC1, JUP, SMARCA2, FABP5, SNRPE, NFKBIA, KDM5B, DUSP1, CDC25B, E2F3, PIK3R2, MAPK7, SETDB1, KMT2C, PREX1, MIR126, SMARCA4, KMT2D, NCOA4, SREBF2, ILK, ENG, STAT6, PNLIPRP1, AMD1, TFF2, KDM4B, MYO6, AGAP2, KDM4C, CDKN1A, CBX5, SKP2, CDKN2B, PTK2B, PMEPA1, EIF3H, PIK3R1, MMP13, PHF8, CBX1, INS, ANXA7, KLK6, BMP2, PPP2CA, TFF1, ACSL3, PTK2, ESR1, KLK4, TMEFF2, AGER, CAV1, CTNNA1, KMT2E, CCND3, FOXO3, ADSL, KMT2B, HOXB13, NELFCD, KDM5A, WIF1, LEF1, TFRC, KDM4A, SMAD3, MAP2K5, NCOA3, MMP15, TIMP3, SMAD9, XIAP, HNRNPK, EP300, NCOA1, PHLPP1, KLK13, KMT2A, SOCS1, TNF, CD55, FHIT, CDH13, TSG101, IKBKB, GRB2, ENO2, PDPK1, PEBP1, BIK, ANG, BAG1, TERC, KLF6, KIF5A, AKT3, MAP3K7, MXI1, ZFHX3, IL16, NAT1, AKT2, KLK10, TP53, RNASEL, PLK1, MGP, ANGPT1, SPINT1, CHI3L1, HDAC3, BCL2L14, HDAC2, HMBS, NME1, TMBIM6, CRKL, PDGFD, ATF4, SPP1, BCL2L1 |
| prostate carcinoma in situ | BTG2, MAP2K6, AMACR, TIMP4, CDKN1B, MAP2K4, AURKB, SMAD4, FZD4, LEF1, MAP2K7, CARM1, FGF6, AREG, RELA, CSF1R, ST14, SLC30A4 |
| Prostate development | FGF3 |
| Prostate development, prostatic hyperplasia | FGF-3 |
| Prostate inflammatory diseases | CXCL8 |
| Prostatic cancer | AR |
| Prostatic function | EGF |
| Prostatic hyperplasia | IL10, VDR, TGFB1, GSTM3, EGFR, FGF3 |
| Prostatic hypertrophy | NME2, TMPRSS2, RELA, FGF7, PDGFD, PDGFB |
| Prostatitis | IL10, TNF, IL6, EGF |
| Prostatitis and prostato-vesiculitis | IL6, IL10, TNF |
| Prostato-vesiculitis | TNF, IL6, IL10 |
| Protamine deficiency | CLU |
| Protects these cells against the increases in oxidative stress associated with paternal age | TXNDC2 |
| Protein C deficiency | PROC |
| Protein S deficiency | TFPI, PROS1 |
| Proteinuria | HLA-DRB1, PGR, NR3C1, GSTM1, GSTT1, F7, SNRPD1, MYH9, AGER, TLR9, PLA2G7 |
| Prothrombin deficiency | F2 |
| Proud syndrome | ARX |
| Provides insights into human reproductive syndromes | KISS1R |
| Proximal renal tubular acidosis | SLC4A4 |
| Proximal symphalangism | GDF5 |
| Prune belly syndrome | CHRM3 |
| Pseudoachondroplasia | COMP |
| Pseudoexfoliation syndrome | SOD2 |
| Pseudofolliculitis barbae | KRT75 |
| Pseudohermaphroditism | NR5A1, HSD17B2, LHCGR |
| Pseudohypoaldosteronism | WNK4, SCNN1B, SCNN1A, WNK1, NR3C2, SCNN1G |
| Pseudohypoaldosteronism type 1 | NR3C2 |
| Pseudohypohyperparathyroidism Combined With Turner Syndrome | GNAS |
| Pseudohypoparathyroidism | GNAS, STX16 |
| Pseudovaginal perineoscrotal hypospadias | SRD5A2 |
| Pseudoxanthoma elasticum | XYLT2, XYLT1, ABCC6, ELN |
| Psoriasis | MMP2, MIF, NAT2, HLA-DQB1, HLA-DRB1, NOS2, HLA-DQA1, HLA-B, TNF, IFNG, STAT4, KIR2DL2, MTHFR, IL10, HLA-G, HLA-A, APOE, IL2, IL4, KIR2DS2, IL1B, IL1RN, VEGFA, VDR, IL6, SLC22A5, CX3CL1, TGFB1, PPARG, SERPINA1, TP53, MDM2, LEP, IL1A, IL12A, IL23A, HLA-C, ACE, GSTT1, GSTM1, CYP1A1, TYK2, ABCC1, ZNF313, CXCL8, TRAF3IP2, IL36RN, AP1S3, CARD14, CFI, MKI67, CDKN1A, DUSP1, CAV1, IL3, EPAS1, CCR6, FCGR2A, FABP5, ADRB2, CCL20, IL13RA1, CFH, IRAK1, ELN, ANXA1, CAST, CTLA4, IL23R, CFB, PTPN22, LTA, CX3CR1, BANK1, IL20, C2, MBL2, CADM2, AGER, PSMB9, IL13, TAP2, CD40, TAP1 |
| Psoriatic arthritis | HLA-C, HLA-DRB1, HLA-B, TNFRSF1B, KIR2DL2, IL10, VEGFA, TNFRSF1A, IL1B, SOD2, EGF, KIR2DS2, TP53, IL1A, CYP1A1, LTA, PECAM1, IL13, PTPN22, TNF, IRAK1 |
| Psychological disorders | NCAM1, NLGN1, PLCG1, ACHE, PENK, PRKCA, SLC6A1, GABBR2, NSUN4, OXT, A2M, NAT2, NGF, COMT, HLA-DQB1, HLA-DRB1, NOS2, NOS3, NPAS2, LIF, HLA-DQA1, BDNF, CLOCK, PICK1, PDXK, TRH, NR3C1, TNF, MTHFR, SERPINE1, PLAT, HLA-A, ESR1, ESR2, CYP1A2, ICAM1, VEGFA, APOE, IL6, SOD2, IL1B, ABCB1, PTGS2, PRL, PON1, TGFB1, PPARG, MTHFD1, IL1RN, SHBG, LEP, IL1A, SERPINA3, TP53, MTR, EGF, APP, MMP9, ACE, EGFR, CRP, GNRHR, GNRH2, ACAT1, GNRH1, GDNF, GNAS, GSK3B, GHRL, GSTT1, GSTM1, APOB, STAT3, PRLR, OGG1, LEPR, WFS1, AHR, LHCGR, AR, ZEB2, NRG1, INHBA, ITGB1, TAC3, PARK7, NTRK1 |
| Psychotic disorder | MT2A, MT3, GDI1, DISC1, CNTF |
| PTEN hamartoma tumor syndrome | AKT1 |
| Pterygium | TNF, IL1B, IL1RN, TP53, ERCC2, APEX1, GSTM1, CYP1A1, XRCC1, OGG1, XPA, VEGFC, FGF2, ELN, PECAM1 |
| Ptosis | FOXC2 |
| Pubertal delay | DAX1 |
| pulmonary alveolar proteinosis | SFTPB, SFTPD, DEFB1, DEFB4A |
| Pulmonary arterial hypertension | CAV1, BMPR2, ACVRL1, ENG, KCNK3, SMAD9 |
| Pulmonary disease | NFE2L2, ANXA5, CFTR, OGG1 |
| Pulmonary edema | NOS3, HSPA1A, HSPA1L, TNF, IL13, ADRB2, AGT |
| Pulmonary embolism | NFE2L2, SERPINE1, IL6, ACE, HP, PROC, F2 |
| Pulmonary emphysema | SERPINE2, SERPINA1, SERPINA3, NQO1, CXCL10, SMPD3, KEAP1, CXCR3, CCL2, CCL11, EGR1, CSF3, EPHX1, SFTPC |
| Pulmonary eosinophilia | CCL17, ADAM8 |
| Pulmonary fibrosis | HLA-DRB1, TGFB1, HLA-DQB1, HLA-B, TNFRSF1B, ACE2, IFNG, TNF, IL10, IL18, IL2, IL4, STAT4, SOD2, VEGFA, IL1B, IL6, IL1RN, TERT, IL1A, IL12A, GSTT1, GSTP1, TGFB3, MUC5B, EDN1, TWIST1, CHI3L1, AGER, DEFB1, IL13, CCL11, CCL22, IGFBP5, CCL19, DEFB4A, IL15, CCL17, ALOX5, CCL21, TLR9, EGR1, TFPI, BDKRB1, CHRM3, AP3B1, SFTPC, SFTPB, MBL2 |
| Pulmonary function | NOS3, IL6R, TLR4, SNRPN |
| Pulmonary hypertension | HLA-DPB1, HLA-DRB1, NOS3, HLA-B, HLA-A, TNF, EGR1, BMPR1A, EDN1, HP, TNC, PDGFB, TP53BP1, HDAC4, FGF2, ALOX5AP, AGER, IL13RA1, CD86, IL13, CD28, NAMPT, HPGD, ALOX5, SLC8A1, TRPC3, SERPINA1, HDAC3, CD209, EDNRB, TEK, CAV1, IFNGR1, ESR1, HDAC2, IL13RA2, THPO, HDAC5, THBD, VEGFB, ATP2A2, CSF3, CYP2J2, EPO, SLC6A4, EPAS1, CX3CR1, PTK2, IL23R, ACVRL1, AGTR1 |
| pulmonary neuroendocrine tumor | SRSF2 |
| Pulmonary sarcoidosis | HLA-DRB1, NTF3, CHI3L1, CCL19, DEFB4A, IL15, CCR7, CXCL11, ADA, DEFB1, CXCL10, EGR1, CXCR3, TNC, CXCL5, TNF, ABO, LTA, NOD2 |
| Pulmonary thromboembolism | MTHFR, SERPINE1, F5 |
| Punctate palmoplantar keratoderma | AAGAB |
| Pure gonadal dysgenesis | SRY |
| Purine-pyrimidine metabolic disorder | PNP, DPYS, ATIC, UMPS |
| Purpura | IL13 |
| Pustulosis of palm and sole | TNF, LTA |
| Pycnodysostosis | CTSK |
| Pyogenic bacterial infections, recurrent, due to MYD88 deficiency | MYD88 |
| Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome | PSTPIP1 |
| Pyridoxamine-5'-phosphate oxidase | PNPO |
| Pyruvate carboxylase deficiency | PC |
| pyruvate carboxylase deficiency disease | PC |
| pyruvate decarboxylase deficiency | PDHB, PDHA1 |
| Pyruvate dehydrogenase complex deficiency | DLD, PDHA1, PDHX, PDHB, PDP1, DLAT |
| Pyruvate dehydrogenase E1-alpha deficiency | PDHA1 |
| Pyruvate dehydrogenase E1-beta deficiency | PDHB |
| Pyruvate dehydrogenase E2 deficiency | DLAT |
| Pyruvate dehydrogenase E3-binding protein deficiency | PDHX |
| Pyruvate dehydrogenase phosphatase deficiency | PDP1 |
| Pyruvate kinase deficiency | PKLR |
| pyruvate kinase deficiency of red cells | PKLR |
| Quebec platelet disorder | PLAU |
| Radioulnar synostosis | HOXA11 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia | MECOM, HOXA11 |
| Raine syndrome | FAM20C |
| RAPADILINO syndrome | RECQL4 |
| Rasmussen encephalitis | PDCD1, CTLA4 |
| Reactive arthritis | IL10, TAP1, TAP2 |
| Reading disorder | CNTNAP2 |
| Rectal neoplasm | FOS, WRAP53, PMEPA1 |
| Rectosigmoid endometriosis | PGR, ESR1 |
| Recurrent aphthous stomatitis | TNF |
| Recurrent early pregnancy | PGR |
| Recurrent empty follicle syndrome | PLA2G2A, TGFB1 |
| Recurrent hydatidiform moles | NLRP7 |
| Recurrent implantation failure (RIF) | VEGFA, MMP9, MUC1, HLA-B, HLA-G, PAEP, PTGS2, TP53, IL1B, MMP2, ITGA4, SERPINE1, IFNG, ITGAV, IL10, PGR, LIF, LEP, IL6, TGFB1, CXCL8, BSG |
| Recurrent miscarriages | SYCP3 , CACNA2D1 |
| Recurrent or chronic idiopathic pancreatitis | CFTR |
| Recurrent pregnancy loss | ACE, F5, APOE, MTHFR, SERPINE1, USP26 |
| Recurrent pregnancy loss (RPL) | MTHFR, HMOX1, STAT3, HLA-DRB1, HLA-C, NOS3, AGTR1, HLA-DQB1, TNF, MCP, HLA-B, HLA-DQA1, SERPINE1, ANXA5, HLA-A, IL6, IL10, IL4, CYP1A2, IL18, IL1B, VDR, PGR, TGFB1, VEGFA, CYP17A1, HFE, ACE, ESR1, CYP1B1, CYP1A1, APOB, HLA-E, COL1A1, CYP19A1, CASP3, CGB5, CD8A, LIF, CD16, NR3C1, HLA-G, ESR2, FVL, PRLR, AURKC, DPP6, ITGA4, ITGA6, MMP9, SYCP3, TIMP1, CACNA2D1, IFNG, CD29, ITGAV, MIF, FAS, FASLG, ICAM1, MDM2, IL12A, F5, TP53, BCL2, USP26, CRP, APOE, LEP, CASP1, TERT, HLA-DRA, CD69, CD56, KIR2DL2, H19, IL2 |
| Recurrent spontaneous abortions | MTHFR |
| Recurrent spontaneous miscarriage | H19 |
| Recurrent ovarian cyst formation | LHCGR |
| Reduced fertility | POU5F2, CRYBB2 |
| Reduced fertility, that correlates with Sertoli and germ cell degeneration in seminiferous tubules and immotile spermatozoa | HMGB2 |
| Reduced fertilization rate | ESR2 |
| Reduced ovarian reserve | SIRT3 |
| Reduced sperm concentration | AMH |
| Reduced sperm motility | TNP2, RNASET2 |
| Reduced sperm quality | HLA-G |
| Reduced vas deferens contraction and male infertility | P2RX1 |
| Reducing body myopathy | FHL1 |
| Refsum disease | PEX7, PHYH |
| Regulate motility | HSP90AA1 |
| Regulate spermatogenesis | NRF1 |
| Regulates differentiation of mammalian stem and progenitor spermatogonia. | NEUROG3, STAT3 |
| Regulates mammalian spermatogenesis | YTHDC2 |
| Regulates meiotic progression during spermatogenesis | MED1 |
| Regulates mouse spermiogenesis | AKAP3 |
| Regulates ovarian function and ovulation | RUNX3 |
| Regulates sertoli cell and sperm adhesion | EZR |
| Regulates spatiotemporal expression of the acrv1 gene during spermatogenesis | TARDBP |
| Regulates sperm motility | DLD, CLPSL2 |
| Regulates sperm motility, acrosomal integrity | CLPSL2 |
| Regulates sperm surface proteome | TPST2 |
| Regulates spermatogonia differentiation | DHX36 |
| Regulates spermatogonia proliferation | PTBP1 |
| Regulates spermatogonial maintenance | TSC22D3 |
| Regulates spermiogenesis | TERF2 |
| Regulates testicular development and spermatogenesis in rat | NDRG2 |
| Regulating male infertility | SLIRP |
| Regulating sperm motility and membrane hyperpolarization | LGALS1 |
| Regulating spermatid differentiation | STK11 |
| Regulation of gene expression during meiosis and the early development of spermatids | RFX2 |
| Regulation of germ cell survival during spermatogenesis | E330034G19Rik |
| Regulation of meiosis and maintenance of spermatogonial stem cells | NXF2 |
| Regulation of sertoli cell function | ARID4B, ARID4A |
| Regulation of spermatogenesis | CNR2, JUN |
| Regulator of ectoplasmic specialization dynamics during spermatogenesis in the rat testis | PLS3 |
| Regulator of mouse spermiogenesis | SOX30 |
| Regulator of postnatal spermatogenesis | GLIS3 |
| Reifenstein syndrome | AR |
| Reis-Bucklers corneal dystrophy | TGFBI |
| Renal angiomyolipoma | TSC1, TSC2 |
| renal carcinoma | LETMD1, MCPH1 |
| Renal cell carcinoma | TFE3, FH, FLCN, VHL, PLD2, MOK, LNPEP, SMAD4, MAP2K1, FGF2, RELA, FHIT, KRAS, ST14, MGP, TP53, NME1, TLR9, CAV1, TFRC, FRS2, BTG2, TYMP, PDGFRA, KLK6, CTNNA1, CA9, AMACR, ANG, CDKN1B, CSF1R, TNFRSF10A, TIMP4, PDGFRB, XIAP, NNMT, CCND3, JUP, CDC14B, VEGFC, ANGPT1, PDPN, WNT11, TNF, ADGRB1, SMAD2, PMEPA1, BCL2L1, CCND1, BIK, PIK3R1, TERC, KDM6B, AGTR1, TIMP3, CCNE1, BMP6, SKP2, BIRC2, ATP5MC2, EGLN1, WIF1, HOXB13, EGLN2, PSMB9, CTLA4, THRA, ABCG2, HAVCR2, APC, RNF139, AKT3, SLC49A4, KDM4C, MANF, IL4R |
| Renal coloboma syndrome | PAX2 |
| Renal disease | HLA-DRB1, NOS3, HLA-DQB1, PKD1, HLA-DQA1, CYP11B2, MTHFR, VEGFA, ACE, DCN |
| Renal fibrosis | AGER, CYBB, CYP2J2, GFER, FCAR |
| Renal glycosuria | SLC5A2 |
| Renal hypertension | CYP2J2, CYP2C8, MT-ND1, HSPA8 |
| Renal hypodysplasia and aplasia | FGF20, GREB1L, ITGA8 |
| Renal hypomagnesemia 2 | FXYD2 |
| Renal hypouricemia | SLC2A9, SLC22A12 |
| Renal insufficiency | APOE, ABCB1, TGFB1 |
| Renal tubular acidosis | CUL3, ATP6V1B1, WNK4, SLC4A4, WNK1, SCNN1G, SCNN1A, ATP6V0A4, SCNN1B, SLC4A1, NR3C2 |
| Renal tubular dysgenesis | AGTR1, ACE, AGT |
| Renal-hepatic-pancreatic dysplasia | NPHP3 |
| Renpenning syndrome | PQBP1 |
| Repeated failure of embryo implantation | PTGS2 |
| Represents a regulatory mechanism that is critical for spermatogenesis | PIWIL2 |
| Reproductive anomalies | SOX8 |
| Reproductive anomalies, | SRY |
| Reproductive disorderes | CFTR, CD25, IFNG, TNF, HLA-G, FOXP3, TGFB1, SOX8 |
| Required for acrosome biogenesis during spermatogenesis | ATG7 |
| Required for acrosome formation and fertilization | CCDC136 |
| Required for completion of spermatogenesis | CELF1 |
| Required for cytoskeletal rearrangements during spermatogenesis | KDM3A |
| Required for differentiation of late spermatogenic progenitors | HIP1 |
| Required for flagellum morphogenesis | CFAP157 |
| Required for hyperactivated sperm motility during capacitation and for male fertility | CATSPER3, CATSPER4 |
| Required for maintanence of spermatogenesis | TRIM28, GJA1 |
| Required for maintatining the structural integrity of sperm flagellum and male infertility | TSSK4 |
| Required for male fertility | PPP1CC, PPP1CC2 |
| Required for Male germ cell meiosis and spermatogenesis | TAZ |
| Required for normal spermatogenesis and potentially regulates serine protease-mediated apoptosis in male germ cells | SPINK2 |
| Required for normal testicular development and spermatogenesis | GJA1, BCL2L2 |
| Required for proper mitotic arrest, prevention of premature meiotic initiation and meiotic progression | BNC2 |
| Required for sperm capacitation | CES5A |
| Required for sperm cell survival | PRMT5 |
| Required for sperm maturation | Nf2 |
| Required for sperm maturation and motility | TTLL5 |
| Required for sperm maturation and motility, Male infertility | TTLL5 |
| Required for sperm motility | ATP2B4 |
| Required for sperm motility and male fertility | ATP2B4 |
| Required for spermatid differentiation and male infertility | RBM5 |
| Required for spermatogenesis | DNMT3L, TMEM203 |
| Required for spermatogenesis and involved in retrotransposon suppression in male germ cells | GTSF1 |
| Required for spermatogenesis and male infertility | Trp73 |
| Required for spermiogenesis | UBE2J1 |
| Required for the progression of spermatogenesis | INSL6 |
| RERE-related neurodevelopmental syndrome | RERE |
| Respiratory distress syndrome | GSTT1, GSTP1, GSTM1, ACE, IL10, TNF, VEGFA, IL6, HMOX1, EGF |
| Respiratory hypersensitivity | TGFB1 |
| Respiratory papillomatosis | HLA-DQA1 |
| Respiratory system disease | FCGR2A, EPHX1 |
| Respiratory tract diseases | TNF |
| Response to ovarian stimulation | BMP15 |
| Responsible for physiological sperm volume regulation crucial to in vivo fertilization | AQP8 |
| Restenosis | NOS3, MMP9, HSPA1A, HSPA1B, SERPINE1, HSPA1L, TNFRSF1A, TNF, MTHFR, CCR5, PON1, PPARG, PON2, IL4, APOE, IL6, IL1RN, IL1B, IL1A, ICAM1, HMOX1, MDM2, F5, CYP11B2, ACE, EDNRA, CBS, APOB, TP53, TIMP1 |
| Restless legs syndrome | CNP |
| Restrictive cardiomyopathy | DES, ACTC1, MAP2K6, MAP2K3 |
| Restrictive dermopathy | LMNA, ZMPSTE24 |
| Retarded endometrial differentiation | PAEP |
| Reticular dysgenesis | AK2 |
| Retinal artery occlusion | IL10, MTHFR, F5 |
| Retinal degeneration | SERPINF1, HDAC4, PKD2, PRPH2, RD3, ABCA4 |
| Retinal detachment | EDN1, CCL2, APOA4, CFH, COL2A1 |
| Retinal diseases | ND4, NR3C1, APOE |
| Retinal drusen | CFH |
| Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | ITM2B |
| Retinal dystrophy with or without extraocular anomalies | RCBTB1 |
| Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | RBP4 |
| Retinal dystrophy, juvenile cataracts, and short stature syndrome | RDH11 |
| Retinal function | MLH1 |
| Retinal vascular occlusion | SERPINE1, MTHFR, F5 |
| Retinal vasculopathy with cerebral leukodystrophy | TREX1 |
| Retinal vein occlusion | MTHFR, SERPINF1, F2, ITGA2 |
| Retinal vein thrombosis | MTHFR |
| Retinitis pigmentosa | MAK, OFD1, BBS2, RPGR, ARL2BP, TULP1, ABCA4, PRPF6, PRPF31, PCARE, RP9, KIZ, USH2A, ARL6, RP1, KLHL7, PDE6A, HGSNAT, NR2E3, IMPG2, AGBL5, IDH3B, PRPF3, PRPF8, SLC7A14, FAM161A, SAG, CRB1, ROM1, SNRNP200, NRL, C8orf37, ZNF513, PDE6G, IMPDH1, RLBP1, CNGB1, FSCN2, PDE6B, RHO, CA4, PRCD, MERTK, EYS, TOPORS, IFT172, NEK2, RPE65, RP2, PRPF4, PRPH2, RBP3, EDN1, BCAN, AIPL1, SERPINF1, PRPS1, MFRP, WDR19, RPGRIP1, GUCY2D |
| Retinitis pigmentosa 3 | IQCB1, RPGR, RPGRIP1L |
| Retinitis pigmentosa with skeletal anomalies | CWC27 |
| Retinoblastoma | MDM2, CDKN2A, KIF14, MDM4, CDH11, SNCG, KDM1B, CADM2, SERPINF1 |
| Retinopathy | HLA-DPB1, HLA-DRB1, HLA-DQB1, VWF, HLA-DQA1, SERPINE1, VEGFA, PON2, ICAM1, F5, AR, NOS3, TNF, IL1B, IGF1R, IL1A, HIF1A, ESR1, IGF1, TGFB1, GSTT1, GSTM1 |
| Retinopathy of prematurity | NDP, IHH |
| Retinoschisis | TYR |
| Retractile testes | INSL3, RXFP2 |
| Rett syndrome | BDNF, APOE, MECP2, FOXG1, ADIPOQ, CDKL5 |
| Revesz syndrome | TINF2 |
| Reynolds syndrome | LBR |
| Rh-null hemolytic anemia | RHAG |
| rhabdoid cancer | SMARCB1 |
| Rhabdoid predisposition syndrome | SMARCA4, SMARCB1 |
| Rhabdomyolysis | IL6 |
| Rhabdomyosarcoma | TP53, DICER1 |
| Rheumatic diseases | HLA-DRB1, HLA-DQB1, TNFRSF1B, HLA-B, HLA-DQA1, HLA-C, IL10, TNFRSF1A, HLA-A, IL4, IL1RN, IL1B, ACE, TGFB1 |
| Rheumatic heart disease | CD36 |
| Rheumatoid arthritis | MMP7, MIF, A2M, SERPINE1, SLC19A1, PON1, MMP9, MMP2, TP53, HLA-DRB1, NAT2, B2M, MMP12, NFKB1, IL2RA, HLA-DPB1, NOS2, UBE1, IL37, TNFAIP3, BAT2, ADAD1, MAPKAPK2, HTR2A, MAFB, NOS3, HLA-DRA, HLA-DQB1, NR3C1, PDCD1, HLA-DQA1, ITGAV, IFNG, HSPA1A, PLAT, VDR, TNFRSF1B, TNF, STAT4, IL2, IL10, PTGS2, PLAU, PPARG, PGR, MTHFR, KIR2DS2, MSH5, VEGFA, ESR2, MEFV, IL4, IL1RN, SAA1, IL1B, IL18, SERPINA1, SLC22A5, ABCB1, CCL5, HFE, CYP17A1, TNFRSF1A, FCGR3A, ESR1, PARP1, DNMT3B, CCR5, CYP11B2, TLR2, TLR4, TGFB1, GSTM1, GC, IL6R, TYK2, AR, CYP19A1, CYP21A2, IL6, FOXO3, PLA2G7, GRK2, CHI3L1, CCR3, CASP7, NOTCH4, CD28, SEMA3C, EPAS1, CCL2, ACAN, APOA4, PDGFB, ADAMTS4, LRRK2, CCL22, AGER, CCR4, IL13, ANG, CXCR3, HSPB1, GRK6, ADIPOQ, MMP8, CD80, IL20, ELN, THBD, EDN1, CAST, FCGR2A, SPP1, CCR1, TYMS, RUNX1, CIITA, TAP2, IL4R, MT-ND1, PTPN22, ADRB3, CD40, CLEC16A, MBD4, SLC11A1, ITPA, KIF5A, IL23R, IL3 |
| Rheumatoid osteoarthritis | CSNK2B |
| Rheumatoid spondylitis | TNF, TGFB1 |
| Rhinitis | DNAH5, HLA-DQB1, HLA-DRB1, TNF, MTHFR, IL4, IL2, IL1RN, IL1B, IL18, IL1A, IL5, FOXP3, ACE, TLR2, TGFB1, GSTT1, CYP1A1, GSTM1, GSTP1 |
| Rhizomelic chondrodysplasia punctata | PEX7, AGPS, GNPAT, PEX5, FAR1 |
| Ribose 5-phosphate isomerase deficiency | RPIA |
| Rickets | VDR, CYP27B1 |
| RIDDLE syndrome | RNF168 |
| Rigid spine muscular dystrophy 1 | SELENON |
| Riley-Day syndrome | ELP1 |
| Ring dermoid of cornea | PITX2 |
| Ring sideroblasts | TP53 |
| Rippling muscle disease | CAV3 |
| Risk of cervical dysplasia | MTHFR |
| Robinow syndrome | GNAS, WNT5A, DVL1, DVL3, ROR2 |
| Rolandic epilepsy, mental retardation, and speech dyspraxia | SRPX2, GRIN2A |
| Role in acrosomal formation during spermiogenesis | SLC9A3 |
| Role in acrosome assembly | 1700024P04Rik |
| Role in acrosome biogenesis | GOPC |
| Role in acrosome biogenesis, Male infertility | CSNK2A2 |
| Role in acrosome compaction | ZPBP |
| Role in acrosome reaction rate | PLCB1 |
| Role in cell differentiation and sperm maturation | Bin2a |
| Role in coordinating epididymal function | ELF3, ELF5, AR, PAX2, SOX9 |
| Role in differentiating spermatogonia | SIN3A |
| Role in flagella formation in sperm | KATNB1 |
| Role in germ cell differentiation | ADAM10, ADAM17 |
| Role in human spermatogenesis | PAFAH1B1 |
| Role in male development, spermatogenesis or spermatogenesis cell apoptosis | SPATA3 |
| Role in male fertility by controlling several aspects of male gametogenesis and sperm-egg interaction | PRND |
| Role in male germ cell differentiation during spermatogenesis | TERF2 |
| Role in male germ cell maturation | MSI2 |
| Role in male germ cell maturation, sperm cell development and fertility | MSI2 |
| Role in male infertility | SLC11A2 |
| Role in male meiotic progression | TOPAZ1 |
| Role in mammalian spermatogenesis | KPNB1 |
| Role in maturation in the epididymus | CABS1 |
| Role in meiosis, at the transition from round to elongating spermatids, and in Sertoli cells of developing testis | RARA |
| Role in microtubule functions required for spermatogenesis | MAP7 |
| Role in motility | PPP1CC2 |
| Role in peri-implantation development and spermatogenesis | BSG |
| Role in preventing damage of mature sperm | PARP1 |
| Role in progress and maintanence of spermatogenesis | ZNF384 |
| Role in regulating flagellar motility | LCN2 |
| Role in regulating spermiogenesis | ZFP37 |
| Role in regulating the mammalian acrosome reaction by controlling the membrane fusion system in sperm | RAB3A |
| Role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon | GAPDHS |
| Role in regulation of protein ubiquitination during spermiogenesis | UBQLN1, SPEM1 |
| Role in regulation of spermatogenesis | TICAM1 |
| Role in sertoli cell function and spermatogenesis through the maintenance of sertoli cell cytoskeletal dynamics, BTB integrity, and cell polarity | RICTOR |
| Role in shaping the sperm nucleus | CLIP1 |
| Role in speramtogenesis | SHCBP1L |
| Role In sperm capacitation | CALM1 |
| Role in sperm development and maturation | CST8 |
| Role in sperm flagellum | DCDC2C, CUL3 |
| Role in sperm function | IL4I1 |
| Role in sperm individualization during spermatogenesis | TBCEL |
| Role in sperm maturation | CD52 |
| Role in sperm maturation and fertilization | SRSF10 |
| Role in sperm motility | PPP1CC |
| Role in sperm tail development and/or motility | GGNBP1 |
| Role in sperm-cell mitochondrial function | TAL1 |
| Role in spermatid development | UTP14C |
| Role in spermatogenesis | SPAG5, EHD1, D1Pas1, SPATA4, CREM, GPAT2, WBP2NL, DNMT1, CCNK, HIST1H1T, HLA-G, HSF2, AR, SMAD1, PIK3CB, PLIN1, POU1F1, KDM3A, RFX4, SPANXA1, UBE2A, KDM5D, CCND2, WASL, CCNT2 |
| Role in spermatogenesis and fertilization in humans | PARK7 |
| Role in spermatogenesis especially in cell differentiation from late elongate spermatids to mature spermatozoa | SPATA18 |
| Role in spermatogenesis in mice | E330034G19Rik |
| Role in spermatogenesis, Male infertility | CTCF |
| Role in spermatogenesis, sperm motility | AURKA |
| Role in spermiogenesis | PPP1R42, DNAJB6, DYRK4, TSSK2, TSSK1B, PABPC2 |
| Role in stabilizing actin and microtubules, which are important cytoskeletal elements enabling normal spermatid and Sertoli cell morphology and function | HIP1 |
| Role in testicular development | IL18 |
| Role in the initiation and maintenance of spermatogenesis in the mouse | SMAD1 |
| Role in the maturation and function of testicular somatic cells | GATA4, GATA6 |
| Role n sperm capacitation | CALM1 |
| Rothmund-Thomson syndrome | RECQL4 |
| Rotor syndrome | SLCO1B3 |
| Round spermatid | KDM3A |
| Round spermatid maturation arrest | CREM, TEP1 |
| Round-spermatid maturation arrest | TEP1 |
| Roussy-Levy syndrome | MPZ, PXMP2 |
| RS arrest | PABPC1, PABPC3, EPAB |
| Rubinstein-Taybi syndrome | CREBBP, EP300 |
| Ruijs-Aalfs syndrome | SPRTN |
| Russell-Silver syndrome | H19, IGF2 |
| Saccharopinuria | AASS |
| Saethre-Chotzen syndrome | TWIST1 |
| Salivary gland cancer | CRTC1, MAML2 |
| Sandhoff disease | HEXA, HEXB |
| Santavuori-Haltia disease | PPT1 |
| Sarcoglycanopathies | SGCB, SGCD, SGCA |
| Sarcoidosis | MIF, HLA-DPB1, NFKB1, CD24, HLA-DRA, HLA-DQB1, HLA-DRB1, ACE2, HLA-B, IFNG, HSPA1A, HLA-DQA1, HSPA1L, TNF, HLA-A, HLA-C, PTGS2, VEGFA, KDR, IL4, IL6, IL2, IL1RN, IL18, IL10, IL1B, IL1A, HLA-G, FOXP3, FLT1, FAS, ACE, CCL5, CCR5, TLR4, TLR2, GSTP1, IL12A, TGFB1, SERPINA1, CFTR, NOD2, CDKN1A, HP, SFTPD, CCL17, IL23R, CTLA4, AGTR1, SLC11A1, CFH |
| Sarcoma | ATRX, FUS, HSPB1 |
| SBCAD deficiency | ACADSB |
| SC arrest | PABPC1, PABPC3, EPAB |
| SCAD deficiency | ACADS |
| Scapuloperoneal myopathy | DES, FHL1 |
| Scapuloperoneal spinal muscular atrophy | TRPV4 |
| Scapuloperoneal syndrome | MYH7 |
| Scar hypertrophy | C3 |
| Schaaf-Yang syndrome | MAGEL2 |
| Schimke immuno-osseous dysplasia | SMARCAL1 |
| Schimke immunoosseous dysplasia | SMARCAL1 |
| Schinzel-Giedion midface retraction syndrome | SETBP1 |
| Schistosomiasis mansoni | HLA-DQB1 |
| Schizencephaly | SHH, EMX2, SIX3 |
| Schizophrenia | BDNF, ERBB4, ADCYAP1, PICK1, MAPK14, NCAM1, NDEL1, NFKB1, MMP9, NLGN1, ABCA1, ARID4B, PTBP2, VAMP2, ADAM15, CNR2, SLC18A1, RXRB, AQP4, BZRP, EGR4, HTR2A, STX1A, TBX1, RXRA, NOS3, PIK3CB, SLC1A1, PRKCA, PAFAH1B1, RARA, IGFBP3, NPAS2, SOX10, HLA-DQB1, HLA-DRB1, LIF, TACR3, CLOCK, SPA17, TUBA8, VWF, NR3C1, CYP26B1, CYTB, HSPA1B, HSPA1A, ABCB1, HLA-B, HLA-DQA1, AKT1, CYP1A2, ALDH1A2, TNFRSF1B, PON1, PLA2G6, PTGS1, SOD2, MTHFR, COMT, IL4, APOE, IL6, HLA-C, IL1RN, ESR2, TNF, HSPA5, HSPA1L, IL1B, IL1A, IL10, IL2, LEP, IGF1R, ICAM1, PPARG, HLA-A, ESR1, EGF, FN1, FYN, FGFR2, FGFR1, SPRY4, DDR1, ADM, ACE, ATM, CDKN2A, CBS, TP53, TNFRSF1A, TLR4, TF, PIK3CA, CCR5, APOB, ATP6, PTGS2, GDNF, GSTP1, GSTM1, GSK3B, GH1, TCF7L2, GNAS, GSTT1, GPX1, GSK3A, IL1RAPL1, AR, CDC25A, CLU, DAO, DMPK, DNMT3B, NRG1, GHRL, GJA1, IL5, IL6R, PLA2G2A, PTGDS, SRD5A1, XRCC1, NTRK3, RTN4R, CHI3L1, DISC1, APOL2, SYN2, DRD3, ARPC1A, APOA4, NTRK2, MBNL1, S100B, ARPC1B, MAP2, ELK1, PPP3CB, CALY, BCHE, FEZ1, SNCA, DRD2, ACTR3, GLUL, PPP1R9B, GRIN2D, |
| Schizophrenia tardive dyskinesia | SOD2 |
| Schizotypal personality disorder | AGER |
| Schizotypal traits | NRG1 |
| Schneckenbecken dysplasia | SLC35D1 |
| Schnyder corneal dystrophy | UBIAD1 |
| Schopf-Schulz-Passarge syndrome | WNT10A |
| Schwannomatosis | NF2 |
| Schwartz-Jampel syndrome | HSPG2 |
| Sciatic neuropathy | LRP1, SERPINF1 |
| Scleroderma | SPARC, HLA-DPB1, NAT2, NOS3, HLA-DRA, HLA-DQB1, MMP9, MMP2, MMP12, KIR2DL2, IFNG, HLA-B, STAT4, PLAUR, KIR2DS2, IL6, IL4, IL1RN, ESR2, IL1B, IL10, IL1A, HLA-C, HLA-A, IL2, TNF, ESR1, FAS, ACE, IL12A, TGFB1, SOX5, IL13 |
| Sclerosing cholangitis | TNF, TLR4, NR1I2 |
| Sclerosteosis | LRP4 |
| Scoliosis | CALM1, VDR, ESR2, ESR1, IGF1, CHD7, GH1, TPH1, FBN2, FBN1, ELP1, SRY |
| Scott syndrome | ANO6 |
| Scrotal hypospadiasis | AMH |
| sebaceous gland neoplasm | CDKN1A |
| Sebastian syndrome | MYH9 |
| Seborrhea-like dermatitis with psoriasiform element | ZNF750 |
| Seborrheic keratosis | ANXA1 |
| Seckel syndrome | ATR, RBBP8, NSMCE2, NIN, CEP63, TRAIP, CDK5RAP2 |
| Secondary amennorhea | GDF9, FSHR, NR5A1, PRL, FSHB, CYP21A2, AMH, LHB, SHBG |
| Secondary hyperammonemia | GLUD1, ACADM, PCCA, ETFDH, IVD, PC, CA5A, ALDH18A1, GLUL, ETFB, CPT2, OAT, PCCB, TMEM70, SLC7A7, ETFA, SLC25A20 |
| secondary hyperparathyroidism | TNFRSF11B, ENG |
| Secondary hyperprolactinaemia | CGA |
| Secondary infertility | SERPINE1, F5 |
| Secondary oligoamenorrhea | AMH, INHBA |
| Secondary unexplained infertility | HLA-G |
| Secretory functions of sertoli cells | SPATA2 |
| Seizures | ABCB1 |
| Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance | KCNJ10 |
| SEMD | PAPSS2 |
| SEMD with joint laxity type | B3GALT6, KIF22 |
| SEMD, Matrilin type | MATN3 |
| SEMD, Pakistani type | PAPSS2 |
| Semen analysis | FAS, FASLG |
| Semen coagulation, liquefaction and the survival and preparation of spermatozoa for fertility | FN1, EPPIN |
| Semen coagulation, liquefaction and the survival and preparation of spermatozoa for fertility | FN1, EPPIN |
| Semen quality | ESR2, ESR1, NADPH, GDF15, HSPB1, MAPK8, MAPK1, CGA, BAD, SOD1, FSHR, PARP1, SHBG, TP53, CASP3, CLU, CYP24A1, MTOR, GSK3B, EPPIN, MAPK9, MAPK10, CFTR, hCG, PARP, HSP27, AR |
| Semen quality defects | TP53, CASP3, GDF-15 |
| Semen quality, Sperm motility | Bad |
| Semen viscosity | CFTR |
| Seminiferous tubular dysfunction | TF |
| Seminiferous tubule dysfunction | TF |
| seminoma | PLAAT3, JUP, TYMP, KCNE1, PDPN, ZNF354A, FHIT, HMBS, PDGFRA, SMAD4, HRAS, KRAS |
| Senior-Loken syndrome | NPHP4, NPHP1, WDR19, TRAF3IP1, SDCCAG8, CEP290, IQCB1 |
| Sensenbrenner syndrome | WDR35 |
| Sensorineural hearing loss | HLA-DQB1, HLA-DRB1, TNF, F2, CLCNKA, TMC1, WHRN, ITGA2, MYO7A, GPSM2, BCAP31, TECTA, MYH14, DIAPH1, MBL2, MYO6, KCNQ4, TMIE, GSDME, EYA4, MYH9, GATA3, TMPRSS3 |
| Septate uterus | KDR |
| Septo-optic dysplasia | OTX2, SOX2, SOX3, HESX1 |
| Septooptic dysplasia | HESX1 |
| SERKAL syndrome | WNT4 |
| serous cystadenocarcinoma | CDKN1A, TP53, SGK1 |
| Sertoli cell deficiency | NR5A1 |
| Sertoli cell differentiation and testis development | SCX , TCF21, SRY |
| Sertoli cell dysfunction | NR5A1 |
| Sertoli cell function | NR5A1, GPR37 |
| Sertoli cell function in mice | GPR37 |
| Sertoli cell functions | TF |
| Sertoli cell mediated regulation of spermatogenesis | DKK3 |
| Sertoli cell only (SCO) syndrome | GILZ |
| Sertoli cell only (SCO) testes | CLDN11 |
| Sertoli cell only syndrome | LOC100034248, LOC100101148, MIR509-3, C5orf52, LOC100287728, NT5C1B-RDH14, MROH7-TTC4, DNM3OS, TSPAN1, CCDC182, LOC102723968, TBC1D3I, LOC102725072, AKAP3, ST6GALNAC2, SPAG5, TSBP1, RUVBL2, ACTL7A, KIF2C, SOX30, ADAM29, CAPN11, ODF3, FANCD2OS, SLC26A8, CATSPER1, LYZL2, C12orf54, GTSF1, SPACA7, TPPP2, C16orf78, CALR3, CCDC159, TDRD10, C1orf194, HMGB4, TSACC, C20orf85, SIRPD, BPIFA3, SPATA3, ZDHHC19, SPATA18, MROH2B, WBSCR28, C7orf34, PRSS37, C9orf131, TCP10L, ACTRT2, SUN5, BANF2, CNBD2, C10orf82, UBQLNL, DNHD1, GLT1D1, ADAM21P1, TMCO5A, SPATA8, KCTD19, CMTM2, TEKT5, RNF151, C16orf92, C16orf71, DNAH2, CCDC42, PROCA1, LYPD4, HIPK4, ZNRF4, FAM187B, ATP8B3, LINC00905, LELP1, FAM71A, GTSF1L, ROPN1B, C3orf22, C3orf30, FAM81B, TTC23L, FAM71B, PLAC8L1, ZC2HC1B, HDGFL1, LOC157740, MGC24103, SAXO1, ADAM3A, CXorf65, C12orf50, CCDC60, FAM71D, ODF3L1, C16orf82, PHOSPHO1, DCC, UBL4B, CCDC116, C2orf57, CDC20B, GALNTL5, SPACA4, DMRT1, DXO, ANTXRL, FAM71C, EIF4E, TTC21A, GGN, SLFNL1, VWA3B, C17orf74, TCTE1, C8orf74, TMEM31, TB |
| Sertoli cell only syndrome (cSCOS) | LH |
| Sertoli cell only syndrome (SCOS) | DAZ1, CDY1, INHBA, GILZ, CLDN11, NDRG2, NOS2, PRL, PCNA, USP9Y, CYP11A1, GNRH1, GNRH2, GNRHR, HSD3B2, LHB, FSHB, LRWD1, AR, HNRNPL, SMAD2, PGR, ETV5, BPY2, IL1B, HSFY1, KCNQ1, HOXD9, DFFRY, F2R, MLH1, HSPA1B, NR5A1, ESR2, ESR1, TERT, PTGS2, CYP19A1, HSPA2, YWHAQ, SAM68, SYCP3, SPATA9, MSH2, NYD-SP12, DDX3Y, ACR, LAMB1, GAPDHS, LEPR, TGFB1, GDNF, MND1, SPATA22, PLK4, SEPTIN12, FGF9, LEP, SYCP1, SPO11, USP26, FANCM, STAG3, FASLG, DAZ2, MSH4, MSH5, ACE, BMP4, VIM, IL7R, CTNNB1, EGFR, PRPS2, AMH, KRT1, RBMY1A1, DAZ4, TGFA, CASP3, GGPS1, SPATA17, SOX9, HNRPL |
| Sertoli cell syndrome | RAD21L1 |
| Sertoli cell-only (SCO) syndrome | BPY2 |
| Sertoli cell-only syndrome | COL1A1, CYP17A1, CYP19A1, DAZ1, ACE, ESR1, ESR2, F2R, H19, HSPA1B, HSPA2, IL1B, KCNQ1, MLH1, MSH2, SYCP3, PTGS2, TERT, DFFRY, TEX101, SPATA9, NYD-SP12, HSFY, CDY1, SYCE1 |
| Sertoli cell-only syndrome (SCO) | GDNF, LEP, LEPR, ACR, PABPC3, MND1, SPATA22, LAMA5 |
| Sertoli cell-only syndrome (SCOS) | PLK4, SEPT12, FGF9, PABPC1, FANCM, BOULE, TGFB1, EPAB, USP26 |
| Sertoli cell-only syndrome (SCOS), Azoospermia | FANCA |
| Sertoli cell-only syndrome, Male infertility | HOXD9 |
| Sertoli cell-only syndrome (SCOS) | STAG3, SPO11, MSH4, MSH5, SYCP1 |
| Sertoli cells only-syndrome | VIM |
| Sertoli only syndrome (SOS) | IL1RN |
| Sertoli- cell only syndrome | CYP11A1, LHRH, GNRH2, HSD3B2, PGR |
| Sertoli-cell only syndrome | EGFR, PRPS2 |
| Sertoli-cell-only (SCO) syndrome | AMH, RBMY1A1 |
| Sertoli-cell-only syndrome | AR, CASP3, GGPS1 |
| Sertoli-cell-only syndrome (SCOS) | SPATA17, KRT1 |
| Sertoli-cells-onlysyndrome (SCOS) | SOX9 |
| Sertoli cell-only (SCO) | PGR |
| Sertoli cell-only syndrome(SCOS) | ESR1 |
| Sertoli cell-only syndrome | SAM68, YWHAQ, CTNNB1, FASLG, BMP4 |
| Serves as an uncapacitation factor in uterus | SPINKL |
| Several psychiatric disorders | NLGN1, ADCYAP1, NOS2, NOS3, SLC1A1, NR3C1, LIF, AGTR1, ESR1, PRL, PRLR, EGF, EGFR, NRG1, GNRH2, GNRHR, GNRH1, GDNF, INHBA, LEP, LEPR, LHCGR, OXTR, NTRK1 |
| Severe acute respiratory syndrome | IFNG, IL10, CXCL10, SERPINA3 |
| Severe combined immunodeficiencies | RAG1, IL2 |
| severe combined immunodeficiency | IL7R, ZAP70, RFX5, TAPBP, RAG2, RFXANK, PTPRC, IL2RG, DCLRE1C, ADA |
| Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | NHEJ1 |
| Severe congenital neutropenia | CSF3R |
| Severe oligozoospermia | CCNA1 |
| Severe oligozoospermia, male infertility | HAUS7 |
| Severe spermatogenic defects | SEPT12 |
| Severe teratospermia | NECTIN2 |
| Severe teratospermia, Male infertility | NECTIN3 |
| Severely impaired spermatogenesis | CATSPER1 |
| Severe oligozoospermia | BRCA2 |
| Sex determination | AMH, NR5A1 |
| Sex reversal | NR5A1, GATA4, SRY |
| Sex reversal syndrome | SRY |
| Sex-dependent growth | VDR |
| Sexual differentiation disorders | AMH |
| Sexual dysfunctions | INSR |
| Sexual infantilism | CYP17A1 |
| Short QT syndrome | KCNH2, KCNJ2 |
| Short rib-polydactyly syndrome | DYNC2H1, NEK1, WDR35, DYNC2I1 |
| Short stature | IGF1, INSL3 |
| SHORT syndrome | PIK3R1 |
| Short-rib thoracic dysplasia | IFT140, WDR19, IFT52, NEK1, DYNC2LI1, INTU, WDR35, CEP120, TTC21B, IFT80, JBTS23, IFT43, DYNC2I1, DYNC2I2, IFT172, TCTEX1D2, IFT81 |
| Shows a dramatic reduction in sperm counts and motility and are infertile | LIPE |
| SHOX-related short stature | SHOX |
| Shprintzen-Goldberg syndrome | SKI |
| Shwachman-Diamond syndrome | SBDS, EFL1 |
| Sialidosis | NEU1 |
| Sialuria | SLC17A5, GNE |
| Sick sinus syndrome | HCN4, SCN5A, ANK2, AGT |
| Sickle cell anemia | MYB, APOA1, NOS3, HLA-DQB1, HLA-DRB1, MTHFR, APOE, CCR5, YTHDC2, HBB, F2, PECAM1, CD36, TNF, CFB, HMBS, BCL11A, ALAD, CYP2C19, HBG2 |
| Sideroblastic anemia | GLRX5, SLC25A38, ABCB7, CALR |
| Sifrim-Hitz-Weiss syndrome | CHD4 |
| signet ring cell adenocarcinoma | TFF1 |
| Silicosis | HLA-DPB1, NFKB1, HLA-DQB1, HLA-DRB1, IL1RN, IL1B, IL1A, TNF |
| Silver spastic paraplegia syndrome | BSCL2 |
| Silver syndrome | BSCL2 |
| Simpson-Golabi-Behmel syndrome | OFD1, GPC3 |
| Singleton-Merten syndrome | IFIH1 |
| Sjogren syndrome | IRF5 |
| Sjogren's syndrome | IL10, MMP9, HLA-DRB1, HLA-DQB1, HLA-B, HLA-DQA1, KIR2DL2, IFNG, APOE, IL6, IL4, HLA-C, FAS, FASLG, STAT4, CCR5, TGFB1, BST2, IL13, LTA, SELP, CTLA4, IL23R, HNRNPH1, CAST, TNF, PTPN22 |
| Sjogren-Larsson syndrome | ALDH3A2 |
| Skeletal defects, genital hypoplasia, and mental retardation | ZBTB16 |
| Skin benign neoplasm | HRAS |
| skin cancer | CRKL, ANXA7 |
| Skin disease | TNF |
| Skin fragility-woolly hair syndrome | DSP |
| skin melanoma | FANCD2, CD40, AGT, FANCA, TYR, OCA2, CCL2 |
| Skin papilloma | CCL20 |
| Skraban-Deardorff syndrome | WDR26 |
| Sleep apnea | ADIPOQ, RELA, CYBA, TNF, HP, CYSLTR1, HCRT, EDN1, CCL2, CXCL6, PLA2G7, SLC6A4, ADRB1 |
| Sleep disorders | TNF, HTR2A, HLA-DQB1, APOE, COMT, CLOCK |
| Slow ovarian response | LHCGR |
| Small cell lung cancer | RARB, FHIT, TP53 |
| small intestine adenocarcinoma | MAP2K1, MAP2K2 |
| Smith-Kingsmore syndrome | MTOR |
| Smith-Lemli-Opitz syndrome | APOE, DHCR7 |
| Smith-Magenis syndrome | RAI1 |
| Snijders Blok-Fisher syndrome | POU3F3 |
| Snyder-Robinson syndrome | SMS |
| Soft tissue sarcoma | GSTM1, XRCC1, TP53 |
| Solar keratosis | GSTT1, GSTP1, GSTM1 |
| Solitary median maxillary central incisor syndrome | SHH |
| Sorsby fundus dystrophy | TIMP3 |
| Sotos syndrome | NSD1 |
| Southeast Asian ovalocytosis | SLC4A1 |
| Spastic ataxia | KIF1C, MTPAP, VAMP1, AFG3L2, SACS |
| Spastic paraplegia | HSPD1, UCHL1 |
| Spastic paraplegia, optic atrophy, and neuropathy | KLC2 |
| Spastic paraplegia-psychomotor retardation-seizures syndrome | HACE1 |
| Spastic quadriplegic cerebral palsy | GAD1, ADD3 |
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | SLC1A4 |
| Speech-language disorder | FOXP2 |
| Speech-language disorder 1 | FOXP2 |
| Sperm anomaly | PGR |
| Sperm autoantibodies | IL10, CXCL8, IL5, CD79A, HLA-DR, HLA-A, IL6, IL8 |
| Sperm capacitation | NF2, Svs2, SVS4, SVS3 , GSN, CFL1, GSPT1 |
| Sperm capacitation, Male infertility | SVS4, SVS2 |
| Sperm cell concentration | LH |
| Sperm cell development and fertility | MSI2 |
| Sperm concentration | SRD5A2, CYP19A1, HSD17B1, LDHC, H19, CYP1A1, ESR1, ESR2, SHBG |
| Sperm concentration and motility | FSHB, LHB, ESR2, CYP1A1, SHBG, ESR1, GHRL, AR |
| Sperm counts | MTHFR |
| Sperm decapacitation | PAFAH1B2, SERPINE2 |
| Sperm decapacitation factor | SERPINE2 |
| Sperm defects | SETD2 |
| Sperm deformation | SPATA20 |
| Sperm density | LDHC |
| Sperm development | TMF1 |
| Sperm DNA damage | MLH1, MSH4, MSH5, P2, PMS2, PRF1, MLH3, P1 |
| Sperm DNA fragmentation | FSHB, CLU, LHB, XPA |
| Sperm fertilization capacity | AT2R, CRISP4, SOD1, PRSS37, AMY2A, CFTR |
| Sperm fertilization capacity, Male infertility | CRISP4 |
| Sperm fertilization potential | SOD1 |
| Sperm fertilizing ability | PRSS37 |
| Sperm fertilizing capacity | CFTR |
| Sperm fibrous sheath dysplasia | AKAP3 |
| Sperm flagellar defects | CFAP251 |
| Sperm function | TNF, NOS2, BSPH1, SOD1, MALT1, MLT |
| Sperm head anomaly | DNAH6 |
| Sperm head remodelling and sperm tail development | Zfy2 |
| Sperm head-tail junction | SUN5 |
| Sperm hyperactivation | TRPV4 |
| Sperm immotility | INSL6, CCDC103 |
| Sperm macrocephaly | DPY19L2, AURKC |
| Sperm maturation arrest | SLC2A9, RNASE10, DEFB110, WIP1, PACAP, MLH1, PDZK1 |
| Sperm maturation defects | Defb41 |
| Sperm maturation effects | PDZK1 |
| Sperm maturation, male fertility | RNASE10 |
| Sperm methylation errors | CTCFL, MTHFR |
| Sperm methylation errors, Male infertility | MTHFR |
| Sperm morphological defects | SUN5, DNAH1, NPHP4 |
| Sperm morphology | ALB, PAEP |
| Sperm motility | SRD5A2, INSL6, CCDC103, NGF, DAO, TNF, MAPK1, HGF, VDAC2, FSHB, CRISP2, SPAG17, PLTP, TAS2R3, TAS2R43, TAS2R14, SLPI, PLAU, BAD, GALNTL5, PCMT1, IFNG, IL1B, IL6, IL1A, VDR, ADM, CASP9, CX3CL1, FAM71D, TP53, FAM189A1, PARP1, CASP3, CASP8, CYP1A1, CYP19A1, DAZL, ELANE, MTOR, GSK3B, HSD17B1, NSUN7, PAEP, MAPK8, PRM2, SEMG1, SHBG, SOD1, SPAG2, AKAP4, PCLAF, HIBADH, HABP1, MAPK9, MAPK10, PLAG1, TCTE1, VASA, PARP, ESR1, ESR2, CFAP157, HSP27, LH |
| Sperm motility defects | CFAP65, DNAH1, GAPDHS, TAS2R14, CFAP44, SPAG2, PRDX2, C1QBP, TNF, TP53, VDAC2, VDR, NSUN7, CFAP43, CASP3, PAF, TYRO3 |
| Sperm motility, Male infertility | TAS2R43, caspase-8 |
| Sperm number defects | ADGRG2, TDRD9, SIRPA, DNAH6, MEIOB, DNMT3L, NPAS2, TAF4B |
| Sperm output | LHB |
| Sperm quality | CFTR, ITGA6, ITGB1 |
| Sperm quality defects | ITGA6, HSPA4L, CFTR, POLG |
| Sperm tail differentiation and motility | SLC26A8 |
| Sperm tail formation and manchette function | KIF3A |
| Sperm tail morphogenesis | PPP1CC, PPP1CC2 |
| Sperm thermotaxis | TRPV1 |
| Sperm-borne oocyte activating defects | PLCG1, WBP2NL |
| Sperm-cell mitochondrial function defects | TAL1 |
| Sperm-zona pellucida (ZP) binding | ACR |
| Spermatid development | C9orf24 |
| Spermatid quality and quantity | TSPY1 |
| Spermatid quality and quantity defects | TSPY1 |
| Spermatocyte arrest | HSPA2 |
| Spermatocytic and maturation arrest | CLDN11 |
| Spermatogeneisis defects | TMEM203, Trp73, UBE2J1 |
| Spermatogenesis | AP1, SRC |
| Spermatogenesis arrest (SA) | GAA |
| Spermatogenesis defects | MTHFR, MTRR, AR, CYP1B1, TSSK6, COMT, CYP17A1, CYP19A1, HSD17B2, SDHA, SDHB, SHBG, TSGA10, PPP2R3C, TEX14, CFAP43, CFAP44, SUN5, FSIP2, FANCM, WDR66, CATSPER1, KLHL10, NR5A1, AURKC, LBX2, EIF4G3, NANOS2, MUC13, DPP8, DAX1, ACE, AP1, HLA-DQB1, HLA-DRB1, HLA-DQA1, GAA, NOS2, CLCA4, FSHB, AMH, TDRD1, PTPA, IL6R, IL6, SPAG16, HLA-G, NEUROG3, YTHDC2, MED1, DAXX, AKAP3, TARDBP, TPST2, MAPKAPK2, PTBP1, TERF2, RFX2, E330034G19Rik, ARID4B, ARID4A, CNR2, TCF3, CCDC70, IL1A, VDR, MPHOSPH8, FAS, FSHR, CYP1A1, PLS3, SOX30, GLIS3, STK33, MTA1, BAG2, ESR1, GORASP2, HSD17B1, SRC, YES1, HSFY1, CNBP, F2R, JUN, KCNJ6, CSTF2T, DND1, MCP, PRMT5, TSPY1, RAD51, EGR4, CFTR, ACT, DDX25, USP26, H2BFWT, CGA, HSP90AA2P, VIM, ENO1, UXT, USP24, PTBP2, PON1?á, AKT1, INHBA, LHB, MAPK1, PRM1, STAT1, TERT, BPY2, CDY1, MTA2, BRSK2, PIWIL2, GSK3B, PIWIL1, 1700008O03Rik, MGAT1, DAZ1, DNMT3L, DNMT3B, TPX1, DAZ4, NYD-SP12, MLH3, PTGS2, NFE2L2, NKD1, ALDH1A2, TCTEX1D4, ODF1, STRC, SCF, H19, KIT, TSPY, IFT140, SPINK2, DNAJB13, STRBP, PPP1CC, HAGH, D |
| Spermatogenesis defects, Male infertility | E2F1, RNF216, PTPA |
| Spermatogenesis dysfunction | INHBB |
| Spermatogenesis impairement, Male infertility | RAD51 |
| Spermatogenesis impairment | DAZ4, THRB |
| Spermatogenesis impairment, Male infertility | DAZ3 |
| Spermatogenesis progressed normally but that mature sperm had defective forward motility | PRKCA |
| Spermatogenesis/testicular development | BGR |
| Spermatogenetic arrest | VIM |
| Spermatogenetic defects | HCG, ENO1, AKT1, USP24, AR, LHB, MGAT1, PON1 , SASH3, PIWIL2, MAPK1, PRM1, PTBP2, SOD2, Stat1, 1700008O03Rik, TERT, TESK1, BRSK2, SPAG9, CDY1, MTA2 |
| Spermatogenetic defects, Male infertility | UXT |
| Spermatogenetic impairment and male infertility | DNMT3L |
| Spermatogenic and steroidogenic impairment | APOA1 |
| Spermatogenic arrest | DNMT3B, MLH3 |
| Spermatogenic cycle-specific regulator of gene expression in Sertoli cells | GATA1 |
| Spermatogenic defects | AKT3, ABI1, FLJ44451, MIR933, MIR297, CYP4F30P, FAM95B1, CD24, CDH4, FAR2P2, LIMS3-LOC440895, MIR1234, MIR1323, CHAF1A, TOM1L1, LOC100421494, SH2D3A, CST8, RANBP9, PRMT5-AS1, PAXBP1-AS1, SMC4, GJC1, SAE1, CDH8, ABCC9, NR1H3, GPC6, EDIL3, KCNK7, UST, ACTR2, ADAM8, CTDSP2, HIPK3, FEM1B, CDH13, ACTR1B, ARL4A, DNAL4, PBEF1, G3BP1, EBI3, CDH18, FARP1, MBOAT5, DHRS9, CNIH1, RBM7, LHFPL2, THOC4, LOC101927079, MPHOSPH9, CALCRL, CDK6, DDX39, PRG4, ZNF443, COQ7, RCAN2, LRRC23, WDR68, SLC17A2, SPRY3, CDKN1A, CDKN1B, FSTL3, CDKN1C, CWC27, SAP18, RGS19, LILRB2, KATNB1, VPS26C, B3GALT5, CDKN2D, CDKN3, TRIM22, SEMA3A, TUBB3, SYCP2, CDR2, ADARB1, IFITM3, ARIH2, LYPLA1, IFI30, ZER1, VAV3, GPNMB, MAD2L2, TACC3, CLGN, NXF1, SEC23B, C1orf61, CAP1, CARM1, SEMA6B, IPO8, ATG7, LOC105374845, LOC105379252, GLRX3, CEBPG, PROCR, RPP38, IFI44, ARFGEF2, AKAP3, CCT4, CCT2, NPC2, GNLY, CENPA, IFITM2, POMT1, SMC2, PRPF8, TBL3, ST6GALNAC2, ERLIN1, SPAG5, CENPE, POLR3C, CENPF, GAS2L1, RAD51AP1, IGF2BP3, DMRT2, KHDRBS3, SAM68, C6orf10, TSBP1, |
| Spermatogenic defets | Sun5 |
| Spermatogenic dysfunction | PGAM1, PTGS2 |
| Spermatogenic dysfunction and infertility | FSHR |
| Spermatogenic failure | MEIOB, CFAP69, PMFBP1, QRICH2, ARMC2, DNAH17, CFAP65, CFAP70, USP9Y, TTC21A, AK7, MIR1268A, MIR1281, TNFSF13B , CTSC , ADAMTS5 , INSL6, CPA3, PIWIL4, CYP11A1, CYP19A1, DPT , SAMD9L , AMH, GNRH2, GTF2H3, HSD3B2, MSMB, IL1RN, LDLR , MIRLET7B, MIR100, MIR103A1, MIR107, MIR130A, MIR16-1, MIR18A, MIR185, MIR199B, MIR21, MIR214, MIR23A, MIR23B, MIR30A, MIR30B, FAM129A, PIWIL3, POLG, MIR449A, MIR517B, PRM3, RBP1, MIR483, MIR484, EDDM3B, RHOXF2, CLEC2B |
| Spermatogenic failure, unexplained azoospermia | POTE B, DNMT3L, TWF1 |
| Spermatogenic impairment | SIRPA, DAZ1, NR5A1, KLHL10, NANOS1 |
| Spermatogenic impairment, azoospermia, oligozoospermia | PEX10 |
| Spermatogenic maturation arrest | INHB |
| Spermatogenic maturation arrest (complete or incomplete) | FSHB |
| Spermatogenic and steroidogenic impairment | NAXE |
| Spermatogenic arrest (SA) | CTNNB1 |
| Spermatogenic defects | TSSK6 |
| Spermatogenic disorders | EZH2 |
| Spermatogenic impairment | H2AX |
| Spermatogenic impairment | TSSK4 |
| Spermatogonia differentiation | RAD9A |
| Spermatogonial arrest | SYCP3 |
| Spermiogeneic defects, Male infertility | DICER1 |
| Spermiogenesis | RNF8 |
| Spermiogenesis defects | CRY1, MKRN2, ZFP628 |
| Spermiotelcosis | FLT1 |
| Sperm antibodies and human leukocyte antigens in couples with early spontaneous abortions | HLA-B8, HLA-B |
| Sperm concentration and motility | GHRL |
| Sperm defects | HSPA1B |
| Sperm DNA fragmentation | CLU |
| Sperm DNA fragmentation | XPA |
| Sperm fertilization capacity | EGFR |
| Sperm fertilizing capacity | PA |
| Sperm maturation and motility | MIF |
| Spherocytosis | ANK1 |
| Sphingolipidosis | GLA, SMPD1, PSAP, GALC, SUMF1 |
| Spina bifida | MTRR, MTHFR, MTHFD1, MTR, VANGL1, GLI1, PTCH1, GLI2 |
| Spinal and bulbar muscular atrophy | AR |
| Spinal bone mineral density | MTHFR |
| Spinal diseases | APOE, BDNF, MMP9, IL6, IL1B, VDR, IGF1R, IL1A |
| Spinal dysraphism | NAT2, MGMT, DNMT3A, DNMT1, NOS2, NOS3, MTRR, MTHFR, CBS, PON1, SLC19A1, GAMT, MTHFD1, MTR, PCMT1 |
| Spinal muscular atrophy | HEXA, APOE, UBA1, AR, DYNC1H1, ASAH1, BICD2, SMN2, ATP7A, VAPB, ANKRD1 |
| Spinal muscular atrophy with congenital bone fractures | TRIP4, ASCC1 |
| Spinal ossification | IL1B, VDR, IL1A, ESR1 |
| Spinocerebellar ataxia | ATP8, FMR1, ATP6, TRNL1, PPP2R2B, PUM1, TRPC3, ATXN10, KCND3, EEF2, NOP56, ATXN3, TTBK2, CACNA1A, ELOVL5, SPTBN2, ATXN1, AFG3L2, CCDC88C, CACNA1G, ITPR1, PDYN, MME, TGM6, BEAN1, FAT2, PLD3, TMEM240, PRKCG, ATXN7, FGF14, KCNC3, ATXN2, GRM1 |
| Spinocerebellar ataxia 8 | SYNE1 |
| Spinocerebellar ataxia type 15 | ITPR1 |
| Spinocerebellar ataxia type 28 | AFG3L2 |
| Splanchnic vein thrombosis | F5 |
| splenic marginal zone lymphoma | CD79B |
| Split-hand/foot malformation | MAP3K20, DLX5, WNT10B |
| Spondylarthropathies | HLA-DRA, HLA-B, HSPA1A, HLA-A, CYP17A1, HSPA1B, HLA-C, FAS, HSPA1L |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | NKX3-2 |
| Spondyloarthropathy | COL2A1 |
| Spondylocarpotarsal synostosis syndrome | FLNB |
| Spondylocostal dysostosis | HES7, TBX6, LFNG, DLL3 |
| Spondyloepimetaphyseal dysplasia | UFSP2, NANS, COL2A1, ACAN, BGN, RSPRY1, DDRGK1 |
| Spondyloepiphyseal dysplasia | ACAN |
| Spondyloepiphyseal dysplasia congenita | COL2A1 |
| Spondyloepiphyseal dysplasia tarda | TRAPPC2 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | CHST3 |
| Spondyloepiphyseal dysplasia, Kimberley type | ACAN |
| Spondylometaphyseal dysplasia | COL1A1, TRPV4, CFAP410 |
| Spondylometaphyseal dysplasia with cone-rod dystrophy | PCYT1A |
| Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | PAM16 |
| Spondyloocular syndrome | XYLT2 |
| Spondylosis | ESR1, KL, SLC26A2 |
| Spontaneous abortion | BAT2, RXRB, SLC11A2, KIR2DL2, KIR2DS2, IL10, IL4, CD56, H1-6, Hsp60, TGFB1, ACE, SERPINE1, CD16 |
| Spontaneous cervical artery dissection. | MMP9 |
| Spontaneous testicular atrophy | TP53 |
| sporadic breast cancer | ESR1 |
| Sporadic inclusion body myositis | HLA-DRB1, HLA-DQB1, SERPINA3 |
| Squamous cell carcinoma | KRAS, HRAS, TP53, CDKN2B, XRCC6, EGR1, DUSP1, FGF7, TLR9, XRCC5, ANXA1, CDKN1A, RPE65, NME1, CFH, IRAK1, MANF, OCA2, KMT2C, CCND1, LZTS1, FHIT, RNF6, ING1, CTLA4, WWOX |
| Squamous cell neoplasm | STRAP |
| STAR syndrome | CCNQ |
| Stargardt disease | ELOVL4, ABCA4, CNGB3 |
| status asthmaticus | MPO |
| Status epilepticus | HSPA1A |
| Steel syndrome | COL27A1 |
| Sterility | NANOS3, CD8A, IL2RA |
| Steroidogenic dysfunction in testis | GHRL, Ghrelin |
| Stevens-Johnson Syndrome | HLA-B, HLA-A, TNF |
| Stickler syndrome | COL11A1, COL11A2, COL2A1, COL9A1, COL9A2 |
| Sticky platelet syndrome | GAS6 |
| Stiff skin syndrome | FBN1 |
| Still's disease | IL18, FCGR3A |
| Stimulates mouse sperm capacitation | EGF |
| STING-associated vasculopathy with onset in infancy | STING1 |
| Stomach cancer | GLDC, ASPM, KDM4B, EEF1E1, HDAC2, CBX7, MIR125A, ADGRB1, KIF18A, MIR335, ARPC1B, BARHL2, BST2, HTRA2, BAMBI, AKR1B1, ATP4B, CAPN9, TP53, CYP2E1 |
| stomach carcinoma | KDM4C, KDM4A, CDKN1A, KMT2C, KDM5A, MDC1, LETMD1, SPINT1, ATP6V1C1, CBX7, BCL2L10, MRE11, KRAS, MUTYH |
| Stormorken syndrome | STIM1 |
| Stress | NR3C1, PTBP2 |
| Stress induced sperm cell injury | PTBP2 |
| Striate palmoplantar keratoderma | KRT1, DSP, DSG1 |
| Stroke | KCNK17, ITGA4, ALOX15, ADAMTS1, NOS3, VWF, HLA-DRB1, HLA-DRA, HLA-DQB1, PLAT, SERPINE1, PTGS1, MMP9, APOE, MTRR, MMP2, APEX1, HSPA1B, HSPA1A, ICAM1, MTHFR, MIF, HIF1A, KDR, IL1RN, IL6, F5, SERPINA3, CRP, ACE, CBS, TNF, PON1, TLR4, IL1B, FCGR3A, EDNRA, ESR1, GAS6, GPX1, HSPA1L, MTR, SERPINA1, PKD1, PON2, AGTR1, EPHX2 |
| Stromme syndrome | CENPF |
| Sturge-Weber syndrome | GNAQ |
| Stuve-Wiedemann syndrome | LIFR |
| Subacute G(M2) gangliosidosis | HEXA |
| Subarachnoid hemorrhage | NOS3, APOE, IL1RN, MMP9, MMP12, IL6, HMOX1, COMT, SERPINA3, BDNF, TNF, IL1B, IL1A, IGF1 |
| Subclinical leukodystrophy | CLCN2 |
| Subclinical leukodystrophy, infertility | CLCN2 |
| Subcortical band heterotopia | DCX |
| Subcutaneous fibrosis | SOD2, TGFB1, ATM, XRCC1 |
| Subependymal giant cell astrocytoma | TSC1, TSC2 |
| Subfertile men | IL6 |
| Subfertility | IL6, BRDT |
| Subfertility associated with impaired sperm chromatin condensation | BRDT |
| Subserous uterine fibroid | TNRC6B |
| Successful implantation and pregnancy in human IVF | MMP9, TIMP1 |
| Successful pregnancy | LIF |
| Succinic semialdehyde dehydrogenase deficiency | ALDH5A1 |
| Succinyl CoA:3-oxoacid CoA transferase | OXCT1 |
| Sulfite oxidase deficiency | SUOX |
| Supports sperm function during fertilization | KCNJ6 |
| Supranuclear palsy | IL2 |
| Supravalvular aortic stenosis | ELN |
| Survival of differentiating spermatogonia | DND1 |
| Survival of spermatozoa | MCP |
| Sveinsson chorioretinal atrophy | TEAD1 |
| Swyer syndrome | SRY |
| Symptomatic generalized epilepsies | SPATA5, CNNM2, SYN1, BRAT1 |
| Syndactyly | GJA1, HOXD13, LMBR1, GLI3, IRF6 |
| Syndrome of inappropriate secretion of antidiuretic hormone | AVPR2 |
| Syndromic autosomal recessive mental retardation | SOBP, CRADD |
| Syndromic craniosynostoses | KRAS, POR, RAB23, TWIST1, EFNB1, RECQL4 |
| Syndromic multisystem autoimmune disease | ITCH |
| Syndromic X-linked intellectual disability | MED12 |
| Syndromic X-linked mental retardation | UBE2A, CUL4B, SOX3, KDM5C, SLC6A8, ATP6AP2, HUWE1, NONO, HNRNPH2, AFF2, CNKSR2, PHF8, TAF1, MECP2, UPF3B, OPHN1, GRIA3 |
| Synovial sarcoma | IGF1R, SSX2, SSX1, SS18 |
| Synovitis | HLA-B |
| Synpolydactyly | HOXD13, FBLN1 |
| Systemic inflammatory hyporesponsiveness | TLR4 |
| Systemic inflammatory response syndrome | TLR2 |
| Systemic juvenile idiopathic arthritis | IL6 |
| Systemic lupus erythematosus | FCGR2B, FCGR3B, FCGR2A, ZNF423, C2, TLR5, TNF, SELL, LDLR, CX3CR1, PPP2R2B, CXCR2, CCR3, VCAM1, IL23R, TFPI, THBD, P2RY12, CD80, IL13, ADAMTS13, SFTPD, NOD2, MKI67, SNRPC, F2, RPL12, SNRNP70, ELN, CAST, SNRPD1, APOA1, EPOR, CHAF1A, RPL14, SNRPD2, BANK1, MBL2, PTPN22, BLK, CTLA4, CIITA, CFH, CD40, SLC11A1, TAP2, AGER, TLR9, HSPA1A, IL21R, CCL2 |
| Systemic lupus erythematosus (SLE) | EGFR, ESR2, DNMT1, CD46, NAT2, IL12A, MIF, NFE2L2, NOS2, PON1, KIR2DS2, IL2RA, IFNA1, HLA-G, HLA-DRB1, HLA-DQA1, HLA-DPB1, HLA-C, HLA-B, IFNG, TNF, TNFRSF1B, PPARG, IL6, HIP1, TRIM27, NOS3, RXRB, TNFAIP3, BAT2, CD24, FKBPL, DAXX, CD16, IL1B, FCGR3A, FASLG, FSHR, FAS, VEGFA, HLA-A, MSH5, C3, CCR5, IL10, SOD2, CRP, IL1A, ACE, GSTT1, IL2, GSTP1, HSPA1L, IL1RN, TNFRSF1A, TP53, CCL5, PTGS2, CYP1A1, NR3C1, TLR4, STAT4, PARP1, CXCL8, TLR2, CD44, DDR1, TYK2, MDM2, HLA-DRA, HLA-DQB1, CAT, XRCC1, MMP9, BAT3, ACP1, BRD2, TNFSF10, HLA-E, STAT1, BCL2, TGFBR3, SERPINE1, IL5, KIR2DL2, TGFB3, IL18, MTHFR, VDR, IL4, ERCC2, TGFB1, HSPA1A, CSNK2B, PRLR, F5, CYP17A1, ESR1, GSTM1, PRL, SHBG, AIF1, HSPA1B, HSPA2, IL21, MCP, PDCD1 |
| Systemic primary carnitine deficiency | SLC22A5 |
| Systemic scleroderma | HLA-DRB1, HTR2A, HLA-DQA1, CCL20, F11R, CXCL10, CHI3L1, FLT4, EDN1, CXCR6, CFB, IL27, CCR6, JAM3, CCL2, F2, CAV1, IL27RA, AGT, AGER, CXCL16, SERPINF2, IL13, CXCR3, ADAMTS13, CCL3, PECAM1, HMGB1, CX3CR1, IL1R1, FBN1, ELN, NOTCH4, BANK1, SLC11A1, PTPN22, IL23R, ESR1, LTA, CD86 |
| Systemic sclerosis | HLA-DPB1, NOS3, HLA-DQB1, HLA-DQA1, ACE, TGFB1, FN1, FAS, TNFAIP3, HLA-DRB1, IL1B, STAT4, IL1A, BANK1, IL1R1, PTPN22, IRF5, CCR6, CD247, HLA-DPA1, TNIP1, TNFSF4 |
| Systemic vasculitis | TNF |
| Systolic heart failure | HSPA1A |
| T lymphoblastic leukemia | MYC |
| T-B+Severe combined immunodeficiency | FOXN1, PTPRC, CD3E, CD247, IL7R, IL2RG, CORO1A, JAK3 |
| T-B-Severe combined immunodeficiency | AK2, DCLRE1C, PRKDC, ADA, RAG2 |
| T-cell acute lymphoblastic leukemia | TP53, TAL1, LYL1, NOTCH1, KMT2A, MLLT10, LMO2, TLX1 |
| T-cell immunodeficiency congenital alopecia and nail dystrophy | FOXN1 |
| T-cell leukemia | TCL1A |
| Takayasu arteritis | IL6, IL2, IL12A |
| Takayasu's arteritis | AGER |
| Takenouchi-Kosaki syndrome | CDC42 |
| Tardive dyskinesia | HTR2A, NOS3, CYP1A2, COMT, SOD2, BDNF, CYP17A1, GSTT1, GSTM1 |
| TARP syndrome | RBM10 |
| Tatton-Brown-Rahman syndrome | DNMT3A |
| Tay-Sachs disease | HEXB, HEXA |
| telangiectasis | FERMT1 |
| Temporal arteritis | JAG1, CHI3L1, DLL1, MFGE8, IL21R, ELN, MBL2, CCL2, PTPN22, FCGR2A |
| Temporal lobe epilepsy | AQP4, APOE, IL1B, RELN, FOXO3, DCX, HDAC2, GRIN2B, DTNBP1, ADK, GRIK5, GLUL, HCN1, NPY1R, CASP2, CYFIP1, RASGRF1, NPY, PDYN, KCNAB1 |
| Temporomandibular Joint Disorders | ESR1 |
| Temtamy preaxial brachydactyly syndrome | CHSY1 |
| Tenorio syndrome | RNF125 |
| Teratoma | TYMP, WNT2B, NME2, NME1, PGM3, PGM1 |
| Teratozoospermia | ADAD1, MTHFR, MTR, ITGA5, LAMB1, RACGAP1, NOX5, PRM2, INHBA, TERT, STAT3, CFTR, AR, CASP3, ITGA4, VLA5A, PGR, TNP2, BSCL2, ZPBP1, SEPTIN12, CYP19A1, SERPINA5, TEP1, TRH, GPX1, PRM1, NAT2, ADA, CDH2, AKT3, MED6, NR2E3, NAALAD2, NAALADL1, CDKN2B-AS1, ABI1, GNPDA1, SNHG8, GTF2IP4, TANK, POM121C, SRA1, SNORD19B, MIR943, C8orf88, WWTR1-AS1, STAU2-AS1, LOC100128175, GAFA3, ZNF667-AS1, TRAPPC3L, C20orf78, CTAGE4, ACVR2B-AS1, OST4, LINC01165, LOC100128922, SMIM10L1, LOC100129380, GABPB1-AS1, DPY19L1P1, ZNF37BP, LOC100129518, MRVI1-AS1, SCOC-AS1, LOC100129884, FAM205C, LOC100130111, LOC100130175, LOC100130452, LOC100130458, LOC100130691, USP3-AS1, SYCE1L, C6orf99, ZNF316, ZBTB20-AS1, TSTD1, RPL21P28, ARMCX4, PET100, UBE2DNL, ZNF705G, LOC100132167, WASIR2, TEKT4P2, FRG1HP, LOC100132356, NBPF10, LOC100132731, GOLGA8DP, CXorf51B, LOC100133131, RSU1P2, LOC100133669, CD24, C17orf99, CTAGE8, PDCD6IP, PDCD6, PEG3-AS1, BCL2L11, TOMM6, DCTN1-AS1, SH2B3, TPT1-AS1, GNE, LOC100233156, TROAP, CASC11, LOC100272217, LOC100287413, LO |
| Teratozoospermia, | INHB |
| Teratozoospermia, male infertility | ZPBP1 |
| Teratozoospermia | GPX1 |
| Testicular abnormalities | SOX9 |
| Testicular anomalies with or without congenital heart disease | GATA4 |
| Testicular atrophy | SYCP3 |
| Testicular cancer | CCND2, TP53, ESR2 |
| Testicular descent | MIF |
| Testicular development | GATA4, CLEC7A |
| Testicular developmental defects | GATA4, INHA, SOX9, MAGEA4, UCHL1 , DAZ1 |
| Testicular disorder of sex development (TDSD) | NR5A1 |
| Testicular disorders | INSL3 |
| Testicular dysgenesis | SRY |
| Testicular dysgenesis syndrome | RXFP2, ESR2, INSL3 |
| Testicular dysgenesis syndrome (TDS) | INSL3, AR, RXFP2, ESR2, TGFBR3, SRY, BMP7 |
| Testicular failure | AR, G6PC3, AR3 |
| Testicular feminization | AR |
| Testicular function | AMH |
| Testicular functions | AMH, INSL3, RXFP2 |
| Testicular inflammation | PDIA3 |
| Testicular maldescent | INSL3, SHBG |
| Testicular mixed atrophy | H4-16 |
| Testicular pathologies | INSL3, DLK1 |
| Testicular spermatogenesis | INHBA, INHB |
| Testicular spermatogenesis and steroidogenesis | Nucb2 |
| Testicular torsion | RAF1 |
| Testicular disorder of sex development | DAZ1 |
| Testicular dysfunction | IL6 |
| Testicular dysgenesis syndrome | AR |
| Testicular dysgenesis syndrome (TDS) | BMP7, TGFBR3 |
| Testicular germ cell cancer | ESR1, ESR2, LHCGR |
| Testicular germ cell tumor | HSD17B4 |
| Testicular maldescent | INSL3 |
| Testis development | CNBP, AR, FGF13, PPP2R3C, IQCH, SPAG9 |
| Testis development defects | ADGRG1 |
| Testis developmentcdefects | CNBP |
| Testis failure | GPRC6A |
| Testis maturation arrest | TTY6 , RBMY1J, RBMY2FP, RBMY1F, TTY5, PRY |
| Testis specific transcription factor | Tbx1 |
| Testis tissue protection | HMOX1, HO-1 |
| Testis- specific transcription factor spermiogenesis | Tbx1, SOX30 |
| Testis dysgenesis | NR5A1 |
| Tetra-amelia | WNT3 |
| Tetralogy of Fallot | TBX1, GATA4, GATA6, ZFPM2, NKX2-5, JAG1, GDF1, GJA5 |
| TEX15-deficient spermatocytes exhibit a failure in chromosomal synapsis | TEX15 |
| Thalassemia | HLA-DQB1, MTHFR, F5, ATRX, HBG2, HBA2, HBB, HBA1, TNF |
| Thanatophoric dysplasia | FGFR3 |
| Thauvin-Robinet-Faivre syndrome | FIBP |
| Thiamine pyrophosphokinase deficiency | TPK1 |
| Thiamine-responsive megaloblastic anemia | SLC19A2 |
| Thiel-Behnke dystrophies | TGFBI |
| Thiopurine S-methyltransferase deficiency | TPMT |
| This deficiency causes extensive germ cell apoptosis and blocked spermatid elongation, resulting in severe oligozoospermia, small testes, and infertility in male mice | KDM3A |
| Thoracic aortic aneurysm | CXCR3, TIMP3, MMP14, CXCL10, MMP8, MYH11, ACTA2 |
| Thromboangiitis obliterans | VCAM1, ELN |
| Thrombocytopenia | MTHFR, TGFB1, F5, FASLG, FAS, FCGR3A, GATA1, CYCS, SRC, MASTL, RUNX1, FYB1, ANKRD26, WAS, TNF, F7, MPL, FCGR2A, BRIP1, ITPA, IFNL3, ITGB3, MBL2, ITGA2, CCL2, FLI1, MYH9, ITGA2B |
| Thrombocytopenia-absent radius syndrome | RBM8A |
| Thrombocytosis | MPL, JAK2, CALR, THPO |
| Thromboembolism | NOS3, SERPINC1, VWF, SERPINE1, PLAT, MTRR, IL1R2, IL1RN, ACE, CRP, IL10, SLC19A1, TNF, IL1B, IL6, F5, HFE, MTHFR |
| Thrombophilia | SERPINE1, APOE, MTHFR, APOB, F5, HFE, SERPINC1, PROC, PLG, SERPINA10, FGA |
| Thrombosis | NOS3, VWF, SERPINC1, PLAT, SERPINE1, ICAM1, ABCB1, CBS, TNFRSF1A, TGFB1, MTHFR, ACE, APOB, APOE, CRP, F5, MTR, HLA-DQB1, HLA-DRB1, VTN, ITGA2, PROC, FCGR2A, HRG, FGB, JAK2, F2 |
| Thrombotic thrombocytopenic purpura | ADAMTS13, PROC, CD36, TFPI |
| Thryoiditis | HLA-DQB1, IL1B |
| Thyroid cancer | RET, NCOA4, TPM3, TPR, TFG, CCDC6, KRAS, BRAF, PAX8, HRAS, TP53 |
| Thyroid diseases | POU1F1, IGFBP3, IGF1, IL1B, NTRK1 |
| Thyroid dysgenesis | TAZ |
| Thyroid dyshormonogenesis | SLC26A4, TPO, FOXI1, DUOXA2, DUOX2, SLC5A5, TG, IYD |
| thyroid gland anaplastic carcinoma | CBX7 |
| thyroid gland cancer | CDH16 |
| thyroid gland carcinoma | ATP6V0C |
| thyroid gland Hurthle cell carcinoma | CBX7, PSMB9 |
| thyroid gland papillary carcinoma | RXRG, CCND1, CBX7, RAP1GAP, LEF1, TPM3, BRAF |
| Thyrotoxic periodic paralysis | CACNA1S |
| Thyrotropin-releasing hormone deficiency | TRH |
| Tibial muscular dystrophy | TTN |
| Tietz syndrome | MITF |
| Tietze's syndrome | MITF |
| Timothy syndrome | CACNA1C |
| Tn syndrome | C1GALT1C1 |
| tongue squamous cell carcinoma | FANCC, CAV2, FANCG, FANCF, FANCL, ADIPOQ, CDKN1A |
| Tooth agenesis | FGFR1, WNT10A, MSX1, GREM2, LRP6, LTBP3, EDA, WNT10B, BMP2 |
| Tooth and nail syndrome | MSX1 |
| Tooth loss | MIF |
| Torg-Winchester syndrome | MMP2 |
| Tourette syndrome | COMT, ACP1, GDNF, SLITRK1 |
| Townes-Brocks syndrome | SALL1 |
| Toxic Stevens-Johnson Syndrome | HLA-B |
| Trachoma | HLA-DQB1, HLA-DRB1, HLA-B, TNF |
| Transaldolase deficiency | TALDO1 |
| Transcobalamin II deficiency | TCN2 |
| Transcriptional repressor essential for sperm production and male fertility | ZMYND15 |
| Transient bullous dermolysis of the newborn | COL7A1 |
| Transient cerebral ischemia | CSF3, EPO, F12, GOT1, TFPI, NAMPT, SERPINF1 |
| Transient neonatal diabetes mellitus | ABCC8 |
| Transient neonatal zinc deficiency | SLC30A2 |
| Transitional cell carcinoma | MMP15, CDKN1B, SKP2, RELB, TP53, MMP14, TFRC, APOA1, REL, ANGPT2, TFF1, FGF2, CA9, CDKN2B, FGF1, KRAS, CBX7, CTSH, ERBB3, CTNNA1, CTSB, ANGPT1, PTGES, CAV1, CCND1, AREG, SMAD4, TERC, SFN, TYMP, BCL2L1, HRAS, RAD50, APC |
| Treacher Collins syndrome | POLR1C, POLR1D, TCOF1 |
| Trehalase deficiency | TREH |
| Tricho-hepato-enteric syndrome | TTC37, SKIV2L |
| Trichomegaly | FGF5 |
| Trichorhinophalangeal syndrome | EXT1, TRPS1 |
| Trichothiodystrophy | MPLKIP, GTF2E2, GTF2H5 |
| Trichotillomania | SLITRK1 |
| Trigeminal neuralgia | ESR1 |
| Trigonocephaly | FGFR1, FREM1 |
| Trimethylaminuria | FMO3 |
| Triphalangeal thumb-polysyndactyly syndrome | LMBR1 |
| Triple-receptor negative breast cancer | ANTXR1 |
| Trismus-pseudocamptodactyly syndrome | MYH8 |
| Trophoblastic neoplasm | ANG |
| Tropical calcific pancreatitis | SPINK1 |
| TSC2 angiomyolipomas | IFNG |
| Tubal damage | ICAM1, INHA, MUC5B, INHBA, EGFR |
| Tubal factor infertility | IL10, HLA-DQA1, HLA-DQB1, TLR4, AMH, IL6, BIRC5, IL1B |
| Tuberous sclerosis | TSC2, TSC1 |
| Tuberous sclerosis 1 | TSC1 |
| Tuberous sclerosis complex | TSC1, TSC2 |
| Tubular aggregate myopathy | STIM1 |
| Tubular damage | EGFR |
| Tubuli seminiferi and hyperplasia of the Leydig cells | GNRH1, LHRH |
| Tumor necrosis factor receptor-associated periodic syndrome | TNFRSF1A |
| Turners syndrome | MTHFR, DAZ1, HLA-DRB1, HLA-A, HLA-B, CYP21A2, VDR, IL10, TGFB1, AMH, AR, BDNF, IL6, SRY, USP9Y |
| Type 1 diabetes mellitus | IFIH1, SH2B3, CD226, NAA25, PTPN2, CTLA4, C1QTNF6, PRKCQ, ITPR3, PTPN22, BACH2, CYP27B1, ERBB3, CTSH, CLEC16A, INS, LTA, F7, FUCA1, CCL2, CD86, SERPINF1, CXCL10, ADIPOQ, GPX3, SLC18A2, SERPINA7, CD28, APOC3, HDAC3, CHI3L1, AGER, GHR, HDAC2, LIPC, AOC3, VCAM1, HSD11B2, APOA1, PPBP, IAPP, THBD, IL15, EDN1, CD40, CFB, GAL, CYP2E1, GAD2, ICA1, CD38, PTPRN2, SREBF2, RAN, CD80, ETS1, SLC11A1, TAP1, TAP2, PAX4, XYLT1, AIF1, BANK1, IL1R1, CXCL12, CYP2R1, HLA-DPB1, BTC, NOTCH4, TNF, TLR3, EIF2AK3, DDX39B, BCHE, APOM, CBLB, NEUROD1, ISL1, HLA-DPA1, ALDH2 |
| Type 2 diabetes mellitus | IGF2BP2, JAZF1, ADAMTS9, ENPP1, CDKN2B, SLC30A8, HHEX, CAPN10, CDKAL1, CD36, F2, CTSB, FGA, CXCL10, PPARGC1A, APOA5, PIK3C2A, ADIPOQ, EPO, AOC3, F8, SDC2, RBP4, F7, APOA1, THBD, NAMPT, ASL, FGB, SLC2A3, IAPP, SELP, NUCB2, TNF, ITGA2, GAL, APOH, GGT1, GFPT1, SERPINF1, HSD11B2, ASIP, GIPR, PDX1, ADA, PARL, AGT, APOC1, FGG, FUCA1, UCP3, MFN2, ANGPT2, CACNA1D, LNPEP, LPL, VCAM1, APOD, TNFRSF11B, SOCS3, CXCL12, ETS1, F12, AKT2, TIMP3, FGF2, CHI3L1, INS, CYP2E1, CTSL, EDN1, AHSG, GPX3, UTS2, AHI1, MIR29A, SOD3, SREBF2, CD38, LIPC, MAPK9, ADIPOR2, FFAR1, HK2, BCHE, PLA2G7, IKBKB, DPP4, P2RY12, CNR1, GCK, FABP3, KLF11, CASQ1, HNF4A, NEUROD1, IRS2, GLO1, ADRB3, ADRA2A, PNPLA3, UCP1, PIK3R1, HMGCR, ADRA2B, GHR, FOXC2, GCGR, APOM, PRKAA2, ABCC8, DRD2, IRS1, CYP2C9, SLC2A4, ALDH2, NR1H2, MT2A, MT-ND1, SREBF1, PKLR, LTA, PCSK2, ALDOB, SORBS1, RRAD, PAX4, FXN, ESR1, NPY, CADM2, AKR1B1, GNB3, CYB5R4, PPARD, FOXA2, CPE, AGER, CLPS, BTC, ISL1, IDE |
| Type II collagenopathies | COL2A1 |
| Tyrosinemia | FAH, TAT, HPD |
| tyrosinemia type I | FAH |
| Ubiquitination of this protein facilitates marking of defective spermatozoa in the epididymis for degradation | PHB |
| Ulcerative colitis | ECM1, INSL6, PARK7, HLA-DRB1, MIF, PDCD1, NFE2L2, NFKB1, MLH1, MEFV, IL1B, IL10, HLA-B, SMURF1, IL1R2, SLC9A3, MTRR, TP53, MTR, NR1I2, PTGS1, IL21, IL11, IL17A, HLA-C, VEGFA, HLA-DQB1, KIR2DS2, KIR2DL2, SERPINE1, HLA-A, ABCB1, PPARG, CDH1, HLA-DQA1, VDR, HLA-DRA, IL4, IL1RN, IFNG, ACE, TNFRSF1B, TGFB1, TLR4, STAT3, SLC22A5, IL2, TNF, APOE, ARPC2, CXCL8, MTHFR, NRIP1, GNA12, PTPN11, F5, FAS, SOD2, TLR2, IL23R, MST1 |
| Ullrich disease | COL12A1, COL6A1, COL6A2, COL6A3 |
| Ullrich-Turner syndrome (UTS) | HLA-A1, SRY |
| Ulnar-mammary syndrome | TBX3 |
| Uncombable hair syndrome | PADI3, TGM3 |
| Underdeveloped testicles with azoospermia | FSHB |
| Underdeveloped testicles with azoospermia | FSHB |
| Undermasculinised genitalia and intra-abdominal or inguinal gonads | INSL3 |
| Undermasculinized genitalia | AR |
| Undervirilized male syndrome | AR |
| Undescended testes | MIR135B |
| Undescended testis | AMHR2 |
| Undescended testis | AR |
| Unexplained asthenozoospermia | MIR4326, MIR7153, MIR6510, MIR194-2, MIR197, MIR206, MIR296, MIR328, MIR92B |
| Unexplained azoospermia | DNMT3L, ALF, NR2F2, MAK, NPHP1, HLA-DRB1, HLA-DQA1, MTRR, CBS, COX10, DNAH9, NRG1, GOLGA8CP, MTHFR, EDDM3A, ADAMTS20, POTEB, EDDM3B, TWF1, GTF2A1L, GOLGA8C |
| Unexplained infertility | F5, ESR1, SYCP3, IL11, SLC19A1, NOS2, HBEGF, MMP9, ITGA4, CGA, CD56, CFL1, MLH3, FLT1, ACR, ADAMTS1, PRL, APOA1, NOS3, IL2RA, LIF, CXCL8, ITGAV, IL10, IL2, IL4, IL17A, VEGFA, IFNG, HLA-DRA, ADM, AMH, AMHR2, APOE, BAX, BCL2, NRG1, IGF2R, IL6, INHBA, LEP, MTHFR, gp130, LHB, FSHB, TIMP1, H19, GPX1, INHA, COL1A1, MMP2, MUC1, HLA-DPB1, HLA-G, STAT3, PON-1, ITGA6, CD44, TGFB1, IL18, PGR, FSHR, IL21, HLA-DRB1, HLA-C, HLA-A, HLA-B, CD69, CD52, IGF1R, IGF2, IL12A, FPR1, SOD1, TATI, TNF, TP53, CD98, CALR3, POLG, TLX1NB, ABI1, POM121C, MIR450B, MIR890, MIR892B, MIR892A, LOC100128176, HTR5A-AS1, TRAPPC3L, FAM83H-AS1, ACVR2B-AS1, RBPMS-AS1, ARRDC3-AS1, LINC00966, LINC00910, SRP14-AS1, LOC100131564, NBPF10, HOXA-AS3, LOC100133957, LINC01056, AIRN, RASA4B, ADPGK-AS1, LOC100288142, LINC00624, MIR1322, MIR548F1, MIR2053, MIR1250, MIR1908, LINC00882, TSNAX-DISC1, ZEB2-AS1, RANBP9, LINC00674, MIR3180-5, IQCJ-SCHIP1, NAPA-AS1, LOC100505875, PPP5D1, LRRC72, KRBOX1, LOC100506388, LOC100506421, SRD5A3-AS1, PXN-AS1, SACS-AS1, SLFN12 |
| Unexplained male infertility | HOTAIR, MIR891B, MIR891A, CALR3 |
| Unexplained severe male infertility | MTHFR |
| Unexplained subfertility | POLG |
| Unilateral agenesis of the vas deferens | CFTR |
| Unilateral aplasia (CUAVD), | CFTR |
| Unilateral cryptorchidism | AMH |
| Unilateral or bilateral cryptorchidism | RAF1, FGFR1, SOS1 |
| Unilateral or bilateral cryptorchidism | FGFR1, RAF1, SOS1 |
| Unilateral orchiopexy | AMH |
| Unverricht-Lundborg disease | CSTB |
| Urbach-Wiethe disease | ECM1 |
| Uremia | PON1, ALPL |
| urinary bladder cancer | SFN, KDM4A, JUP, HRAS, KDM4B, EEF1E1, ERBB3, UBE2I, NME1, SMAD4, TP53, ANG, THBS1, KDM5B, S100A8, CTNNA1, CAV1, WIF1, CCND1, MSH6, PLK1, CBX7, CTSB, TFF1, NME2, CA9, TYMP, S100B, VEGFC, RRM2, CDC25B, ENO2, AREG, CCNE1, WNT7B, MMP13, CDKN1B, RALBP1, TERC, HMBS, BCL2L1, DUSP1, F2, SPP1, CCND3, RELA, FHIT, AMACR, ATP5MC2, CDH13, SOCS1, TIMP3, TMEFF2, SOX4, DAPK1, TGFBR1, FGF2, HSPA1A, FGF1, CYP2C9, MAP2K4, SLC11A1, EPHX1, MRE11, KRAS, TNFRSF10A, CDKN2B, FANCA, CXCR2 |
| Urinary schistosomiasis | CTLA4, STAT6 |
| urinary system cancer | NQO1 |
| Urocanase deficiency | UROC1 |
| Urofacial syndrome | HPSE2, LRIG2 |
| Urogenital abnormalities | COL1A1, CFTR |
| Urolithiasis | PLAU, VDR, IL1RN, AR, ESR1, IL1B, SOD2 |
| Uromodulin-associated kidney diseases | HNF1B |
| Urticaria | HLA-C, HLA-DRB1, HLA-DQB1, HLA-DQA1, HLA-A, HLA-B, TGFB1, CCR3, NGFR, F2, NLRP3, ADRB2, PTPN22 |
| Usher syndrome | USH1G, HARS1, USH2A, USH1C, CIB2, ADGRV1, WHRN, MYO7A, CDH23, PDZD7, PCDH15 |
| Uterine anomalies | KDR, FLT1 |
| Uterine cancer | EBAG9, KLK10, LETMD1, L1CAM |
| Uterine diseases | TGFB1, TNF, IL10, IL1B, TIMP2, IL6 |
| Uterine endometriosis | MMP2 |
| uterine fibroid | TNRC6B, BET1L |
| Uterine fibroids | CYP1A1, CYP17A1, PGR |
| Uterine leiomyoma | HMGA2, COL4A6, FH, MED12 |
| Uterine leiomyomas | TP53, IGFBP3, AR, AMH |
| Uterine or ovarian hypoplasia | NR5A1 |
| Uterine receptivity | ITGA6, ITGB4, ITGAV, ESR1, IL12A, IL18 |
| Uterine receptivity in the window of implantation | ITGAV, PGR |
| uterus interstitial leiomyoma | BCL2L1 |
| UV-sensitive syndrome | ERCC6, UVSSA, ERCC8 |
| Uveal melanoma | MCAM, PRAME, BAP1, KDM5B |
| Uveitis | HLA-C, ICAM1, HLA-DRB1, HLA-DQB1, CCL5, CCR5, HLA-A, IFNG, IL1RN, IL6, IL10, SOD2, TNF, TNFRSF1A, TNFRSF1B |
| Uveomeningoencephalitic syndrome | HLA-C, PDCD1, KIR2DS2, KIR2DL2, HLA-DRB1, HLA-A, HLA-B, HLA-DRA, IFNG |
| VACTERL/VATER association | HOXD13, ZIC3 |
| Vacuolar myopathy with CASQ1 aggregates | CASQ1 |
| Van den Ende-Gupta syndrome | SCARF2 |
| Van der Woude syndrome | IRF6, GRHL3 |
| Van Maldergem syndrome | DCHS1 |
| Varicocele | GSTT1, GSTM1, SOD2, NOS2, NEFH, SOD1, NOS1, BAK1, TOP1, SDF4, NOS3, MAPK1, INHBA, IL6, HSPA2, HMOX1, GSTK1, IGF1, TNFSF10, CAT, VWF, PI3K, LEPR, IL17A, AKT1, PTGS1, ACP1, HIF1A, STAT1, ADM, PARP1, AMH, ARG2, BCL2, CASP3, CPP32, CASP9, ESR1, ESR2, F2R, HSF1, HSPA4, HSP90AA1, LEP, MTHFR, PGR, LHB, MAPK, PTGS2, FAS, S100A12, TCP11, TNF, TP53, CRISP2, FSHB, GSTP1, XRCC1, TEKT3, HSFY1, GPX1, GSK3B, HSF2, FASLG, GLB1, BAX, MAN2B1, GNRH1, POLQ, ENGASE, PRM1, ACE, CRISP3, SRD5A, HSPA1B, MIR15A, AR, USP26, PARP, CMTM2, FLT1, HGF, HO-1, INHB, ITGAV, LH, Bak, Bcl-2, HSFY |
| Varicocele related infertility | ACE |
| Varicocele, Male subfertility | SDF4, PLCZ1 |
| Varicocele-associated infertility | HSP90AA1 |
| Varicocele-related infertility | SRD5A |
| Varicocoele | SIRT1, FASLG, AR, CASP9 |
| Varicocoele, Male infertility | OGG1 |
| Varicose ulcer | MMP12, HLA-DRB1, ESR2, HFE, HLA-B, TNF, ESR1, F5 |
| Vascular dementia | ICAM1, SNCG, GRIN2A, GRIN2B, SNCA, GRIN1, SREBF2, TNF, HSPA1A, RPGRIP1L |
| Vascular disease | NOS3, SERPINE1, ACE, IL6, MTHFR, MTRR, PON1, PTGS1, F5, ADIPOQ, GLO1, CPS1 |
| vascular skin disease | AGER |
| Vasculitis | SERPINA3 |
| Vasculogenic impotence | TGFBR2 |
| Vasodilation | NOS3 |
| Vasospastic angina | ACE |
| Velocardiofacial syndrome | TBX1, COMT |
| Venous insufficiency | SERPINE1 |
| Venous malformations | TEK |
| Venous thromboembolism | PLAT, CYP1A2, HFE, HMOX1, MTHFR, PGR, F5 |
| Venous thrombophilia | MTHFR |
| Venous thrombosis | NOS3, COMT, SERPINE1, ANXA5, CBS, ACE, ESR1, MTHFR, MTR, MTRR, F5 |
| venous tributary occlusion of retina | SERPINF1 |
| Ventricular dysfunction | MMP9, PPARG |
| Ventricular fibrillation | DPP6 |
| Ventricular hypertrophy | ACE |
| Ventricular septal defect | GATA4, CITED2, NKX2-5, SALL4 |
| Verheij syndrome | PUF60 |
| Vertebral, cardiac, renal, and limb defects syndrome | HAAO, KYNU |
| Vertigo | PGR |
| Ververi-Brady syndrome | QRICH1 |
| Vesicoureteral reflux | TNXB, ROBO2, AGTR1 |
| Vesiculobullous skin disease | FERMT1 |
| Vessel stenosis | NOS3 |
| Vestibular diseases | GSTP1 |
| Vibratory urticaria | ADGRE2 |
| Viral myocarditis | HLA-DQB1 |
| Visual epilepsy | HSPA1A, TNF, NPY, TBC1D24, ASPM, FCGR2A, L2HGDH, CDKL5, CNTNAP2 |
| Vitamin B12 deficiency anaemia | AMN, CUBN, CBLIF |
| Vitamin D-dependent rickets | CYP2R1, CYP27B1 |
| Vitelliform macular dystrophy | IMPG2, PRPH2, HTRA1 |
| Vitiligo | NFE2L2, HGF, IL2RA, HLA-C, RNASET2, CAT, HLA-DQB1, HLA-DQA1, HLA-DRB1, STAT4, DDR1, COMT, ACE, ESR1, HLA-A, HLA-B, IFNG, IL1RN, IL4, IL10, KIT, KITLG, PTGS2, TNF, VDR, GSTT1, GSTP1, GSTM1, NLRP1, IL13, TYR, HSPA1A, CTLA4, MBL2, PSMB9, PTPN22 |
| Vitreoretinal degeneration | COL11A1, COL2A1, NR2E3, COL18A1 |
| VLCAD deficiency | ACADVL |
| Vogt-Koyanagi-Harada disease | TNF, ITGB2 |
| Vogt-Koyanagi-Harada syndrome | KIR2DL2, KIR2DS2, HLA-DRB1, HLA-DQA1, HLA-DQB1 |
| von Hippel-Lindau disease | EPAS1 |
| von Hippel-Lindau syndrome | CCND1, VHL |
| Von willebrand disease | VWF, MTHFR, PSAT1, F5 |
| von Willebrand's disease 1 | ITGA2B, ITGA2 |
| von Willebrand's disease 2 | F8, ITGA2 |
| vulva cancer | MMP13 |
| Vulva squamous cell carcinoma | CDC25B, SFN |
| Vulval lichen sclerosus | HLA-DQB1, HLA-DRB1 |
| Vulvar cancer | TP53 |
| Vulvar vestibulitis syndrome | IL1RN |
| Vulvovaginal gingival syndrome | HLA-DQB1 |
| Waardenburg syndrome | SNAI2, SOX10, MITF, EDNRB, EDN3 |
| Waardenburg's syndrome | EDN3, MITF, EDNRB |
| WAGR syndrome | WT1 |
| Waldenstroem's macroglobulinemia | CXCR4 |
| Walker-Warburg syndrome | POMT1, FKTN, POMGNT1, FKRP |
| Warburg micro syndrome | RAB18, TBC1D20, RAB3GAP2, RAB3GAP1 |
| Warsaw breakage syndrome | DDX11 |
| Warts | HLA-DQB1, HLA-DRB1 |
| Watson syndrome | NF1 |
| Weaver syndrome | EZH2 |
| Webb-Dattani syndrome | ARNT2 |
| Wegener granulomatosis | HLA-DPB1, PPARG, SERPINE1, ACE, IL10, MDM2, PDCD1, STAT4, TGFB1, TP53, RXRB, TNFAIP3, CCL5, CCR5, HLA-DQB1, IFNG, TNF, IL21 |
| Weill-Marchesani syndrome | LTBP2, FBN1, ADAMTS10, ADAMTS17, TNF |
| Welander distal myopathy | TIA1 |
| Well-developed Müllerian structures, but normal appearing testes | AR |
| Wernicke encephalopathy | SLC19A2 |
| West syndrome | ARX, MC2R |
| Weyers acrodental dysostosis | EVC, EVC2 |
| White sponge nevus | KRT13 |
| Wieacker-Wolff syndrome | ZC4H2 |
| Wiedemann-Steiner syndrome | KMT2A, TAF6 |
| Williams-Beuren syndrome | STX1A, FKBP6, FZD9, DNAJC30, SPDYE1, BAZ1B, LAT2, NSUN5, RCC1L, TMEM270, GTF2IRD1, BUD23, TBL2, RFC2, METTL27, ELN, BCL7B, CLDN4, LIMK1, CLIP2, GTF2I, GALNT17, ABHD11, EIF4H, FZD3, NCF1 |
| Wilms tumor | WT1, H19 |
| Wilson disease | ATP7B |
| Wilson-Turner syndrome | LAS1L, HDAC8 |
| Wilsons disease | APOE |
| Winchester syndrome | MMP14 |
| Wiskott-Aldrich syndrome | WIPF1, WAS |
| Witteveen-Kolk syndrome | SIN3A |
| Wolcott-Rallison syndrome | EIF2AK3 |
| Wolff-Parkinson-White | PRKAG2 |
| Wolff-Parkinson-White syndrome | PRKAG2, MYH6 |
| Wolfram syndrome | WFS1, MT-ND1 |
| Wolman disease | LIPA |
| Woodhouse-Sakati syndrome | DCAF17 |
| Woolly hair | LPAR6, LIPH, KRT74 |
| Worth type autosomal dominant osteosclerosis | LRP5 |
| X-linked adrenal hypoplasia congenita | NR0B1 |
| X-linked adrenoleukodystrophy | HLA-DRB1, AR |
| X-linked agammaglobulinemia | BTK |
| X-linked azoospermia | MAGEB4 |
| X-linked chondrodysplasia punctata | EBP, ARSL |
| X-linked chronic granulomatous disease | CYBB |
| X-linked cone-rod dystrophy 1 | RPGR |
| X-linked distal spinal muscular atrophy 3 | ATP7A |
| X-linked dominant hypophosphatemic rickets | PHEX, FAM20C |
| X-linked exudative vitreoretinopathy | NDP |
| X-linked hypercalciuric nephrolithiasis | CLCN5 |
| X-linked ichthyosis | STS |
| X-linked lymphoproliferative syndrome | XIAP |
| X-linked mental retardation | DDX3X, HCFC1, ARHGEF6, SYP, FTSJ1, RLIM, THOC2, USP27X, ZNF711, ACSL4, USP9X, MID2, DLG3, KIF4A, PAK3, CLCN4, ARX, BRWD3, FRMPD4, GDI1 |
| X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | OPHN1 |
| X-linked myopathy with postural muscle atrophy | FHL1 |
| X-linked recessive hypophosphatemic rickets | CLCN5 |
| X-linked recessive nephrolithiasis with renal failure | CLCN5 |
| X-linked sideroblastic anemia with ataxia | ABCB7 |
| X-linked adrenal hypoplasia congenita (AHC) associated with hypogonadotropic hypogonadism | NR0B1 |
| X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism | NR0B1 |
| X-linked Reifenstein syndrome | AR |
| Xanthinuria | XDH, MOCOS |
| Xanthomatosis | APOE |
| Xeroderma pigmentosum | TP53, ERCC2, XPA, XPC, POLH, DDB2, ERCC5, ERCC4, DDB1 |
| XX gonadal dysgenesis | BMP15, FSHR, GDF9 |
| XX male syndrome | NR5A1 |
| XY gonadal disorder of sex development | NR5A1 |
| XY gonadal dysgenesis | WT1 |
| XY sex reversal | HSD17B3 |
| XY sex reversal with clitoromegaly | NR5A1 |
| XY sex-reversed female with pure gonadal dysgenesis | SRY |
| Young-Simpson syndrome | KAT6B |
| Zellweger syndrome | PEX10, PEX2, PEX19, PEX26, PEX13, PEX5, PEX12, PEX3, PEX14, PEX1, PEX16, SCP2, PHYH |
| Zimmermann-Laband syndrome | ATP6V1B2 |
| Zollinger-Ellison syndrome | MEN1 |
| Zona pellucida-binding capacity of spermatozoa | ADM |
| ZTTK syndrome | SON |
| Regulate the viability of differentiating spermatogonia | SOHLH2 |
| Regulator of gamete development | PIWIL1 |
| Varicocele-related sperm impairment | MIR15A |