• Gene id: 3952

Gene Summary

• Gene Symbol: LEP   Gene   UCSC   Ensembl
• Aliases: LEPD, OB, OBS
• Gene name: leptin
• Alternate names: leptin, leptin (murine obesity homolog), leptin (obesity homolog, mouse), obese protein, obese, mouse, homolog of, obesity factor,
• Gene location: 7q32.1 (128241200: 128257628)     Exons: 3     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathwa
• OMIM: 164160

SNPs

rs10244329

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.128248636A>T
NC_000007.13   g.127888689A>T
NG_007450.1   g.12359A>T|SEQ=[A/T]|GENE=LEP

Protein Summary

• Protein general information: P41159  
  • Name: Leptin (Obese protein) (Obesity factor)
  • Length: 167  
  • Mass: 18,641
• Sequence:

  MHWGTLCGFLWLWPYLFYVQAVPIQKVQDDTKTLIKTIVTRINDISHTQSVSSKQKVTGLDFIPGLHPILTLSKM
  DQTLAVYQQILTSMPSRNVIQISNDLENLRDLLHVLAFSKSCHLPWASGLETLDSLGGVLEASGYSTEVVALSRL
  QGSLQDMLWQLDLSPGC

• Structural information:
  • Interpro: IPR009079  IPR000065  
  • PDB: 1AX8
  • PDBsum: 1AX8
  • DIP: 6116
  • STRING: ENSP00000312652
• Other Databases: GeneCards:  LEP  Malacards:  LEP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0001525	angiogenesis	IDA	biological process
GO:0001525	angiogenesis	IDA	biological process
GO:0001542	ovulation from ovarian follicle	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001819	positive regulation of cytokine production	IEA	biological process
GO:0001890	placenta development	IDA	biological process
GO:0001936	regulation of endothelial cell proliferation	IDA	biological process
GO:0002021	response to dietary excess	IEA	biological process
GO:0003300	cardiac muscle hypertrophy	IEA	biological process
GO:0005179	hormone activity	IBA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006006	glucose metabolic process	IEA	biological process
GO:0006111	regulation of gluconeogenesis	IEA	biological process
GO:0006112	energy reserve metabolic process	IEA	biological process
GO:0006114	glycerol biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IBA	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0007260	tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008206	bile acid metabolic process	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008343	adult feeding behavior	ISS	biological process
GO:0010507	negative regulation of autophagy	IDA	biological process
GO:0010888	negative regulation of lipid storage	IEA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0019953	sexual reproduction	IMP	biological process
GO:0021954	central nervous system neuron development	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0030217	T cell differentiation	ISS	biological process
GO:0030300	regulation of intestinal cholesterol absorption	IEA	biological process
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0032099	negative regulation of appetite	ISS	biological process
GO:0032310	prostaglandin secretion	IDA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032814	regulation of natural killer cell activation	IDA	biological process
GO:0032817	regulation of natural killer cell proliferation	IDA	biological process
GO:0032868	response to insulin	IBA	biological process
GO:0033197	response to vitamin E	IEA	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0033686	positive regulation of luteinizing hormone secretion	IEA	biological process
GO:0035360	positive regulation of peroxisome proliferator activated receptor signaling pathway	IEA	biological process
GO:0035630	bone mineralization involved in bone maturation	IEA	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	ISS	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	IBA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0042269	regulation of natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042445	hormone metabolic process	IEA	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042755	eating behavior	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043270	positive regulation of ion transport	IEA	biological process
GO:0043410	positive regulation of MAPK cascade	ISS	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0044320	cellular response to leptin stimulus	IDA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045639	positive regulation of myeloid cell differentiation	IEA	biological process
GO:0045765	regulation of angiogenesis	IDA	biological process
GO:0045906	negative regulation of vasoconstriction	IEA	biological process
GO:0046325	negative regulation of glucose import	IDA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IDA	biological process
GO:0046628	positive regulation of insulin receptor signaling pathway	IEA	biological process
GO:0046850	regulation of bone remodeling	ISS	biological process
GO:0046881	positive regulation of follicle-stimulating hormone secretion	IEA	biological process
GO:0048639	positive regulation of developmental growth	IDA	biological process
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0050810	regulation of steroid biosynthetic process	IEA	biological process
GO:0050892	intestinal absorption	IDA	biological process
GO:0050901	leukocyte tethering or rolling	IEA	biological process
GO:0050999	regulation of nitric-oxide synthase activity	IDA	biological process
GO:0051428	peptide hormone receptor binding	IBA	molecular function
GO:0051726	regulation of cell cycle	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	ISS	biological process
GO:0060587	regulation of lipoprotein lipid oxidation	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0061037	negative regulation of cartilage development	IEA	biological process
GO:0070093	negative regulation of glucagon secretion	IEA	biological process
GO:0071298	cellular response to L-ascorbic acid	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0072604	interleukin-6 secretion	IDA	biological process
GO:0072606	interleukin-8 secretion	IDA	biological process
GO:0090335	regulation of brown fat cell differentiation	ISS	biological process
GO:0098868	bone growth	ISS	biological process
GO:1900015	regulation of cytokine production involved in inflammatory response	IDA	biological process
GO:1900745	positive regulation of p38MAPK cascade	IDA	biological process
GO:1904651	positive regulation of fat cell apoptotic process	IEA	biological process
GO:1990051	activation of protein kinase C activity	IDA	biological process
GO:2000366	positive regulation of STAT protein import into nucleus	IBA	biological process
GO:2000379	positive regulation of reactive oxygen species metabolic process	IEA	biological process
GO:2000486	negative regulation of glutamine transport	IEA	biological process
GO:2000491	positive regulation of hepatic stellate cell activation	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0001525	angiogenesis	IDA	biological process
GO:0001525	angiogenesis	IDA	biological process
GO:0001542	ovulation from ovarian follicle	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001819	positive regulation of cytokine production	IEA	biological process
GO:0001890	placenta development	IDA	biological process
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0001936	regulation of endothelial cell proliferation	IDA	biological process
GO:0002021	response to dietary excess	IEA	biological process
GO:0003300	cardiac muscle hypertrophy	IEA	biological process
GO:0005102	receptor binding	IEA	molecular function
GO:0005179	hormone activity	IEA	molecular function
GO:0005179	hormone activity	IEA	molecular function
GO:0005179	hormone activity	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006006	glucose metabolic process	IEA	biological process
GO:0006111	regulation of gluconeogenesis	IEA	biological process
GO:0006112	energy reserve metabolic process	IEA	biological process
GO:0006112	energy reserve metabolic process	TAS	biological process
GO:0006114	glycerol biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IBA	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007260	tyrosine phosphorylation of STAT protein	IEA	biological process
GO:0007260	tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008206	bile acid metabolic process	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008343	adult feeding behavior	IEA	biological process
GO:0008343	adult feeding behavior	ISS	biological process
GO:0009062	fatty acid catabolic process	IEA	biological process
GO:0009892	negative regulation of metabolic process	IEA	biological process
GO:0010507	negative regulation of autophagy	IEA	biological process
GO:0010507	negative regulation of autophagy	IDA	biological process
GO:0010888	negative regulation of lipid storage	IEA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0019222	regulation of metabolic process	IEA	biological process
GO:0019953	sexual reproduction	IEA	biological process
GO:0019953	sexual reproduction	IMP	biological process
GO:0021954	central nervous system neuron development	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0030217	T cell differentiation	ISS	biological process
GO:0030300	regulation of intestinal cholesterol absorption	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0032099	negative regulation of appetite	IEA	biological process
GO:0032099	negative regulation of appetite	ISS	biological process
GO:0032310	prostaglandin secretion	IDA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032814	regulation of natural killer cell activation	IDA	biological process
GO:0032817	regulation of natural killer cell proliferation	IDA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0032868	response to insulin	IBA	biological process
GO:0033197	response to vitamin E	IEA	biological process
GO:0033210	leptin-mediated signaling pathway	IEA	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0033686	positive regulation of luteinizing hormone secretion	IEA	biological process
GO:0035360	positive regulation of peroxisome proliferator activated receptor signaling pathway	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0035630	bone mineralization involved in bone maturation	IEA	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	ISS	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	IBA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0042269	regulation of natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0042445	hormone metabolic process	IEA	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042755	eating behavior	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043270	positive regulation of ion transport	IEA	biological process
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0043410	positive regulation of MAPK cascade	ISS	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0044320	cellular response to leptin stimulus	IDA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045598	regulation of fat cell differentiation	IEA	biological process
GO:0045639	positive regulation of myeloid cell differentiation	IEA	biological process
GO:0045765	regulation of angiogenesis	IDA	biological process
GO:0045906	negative regulation of vasoconstriction	IEA	biological process
GO:0046325	negative regulation of glucose import	IDA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IEA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IDA	biological process
GO:0046628	positive regulation of insulin receptor signaling pathway	IEA	biological process
GO:0046850	regulation of bone remodeling	IEA	biological process
GO:0046850	regulation of bone remodeling	ISS	biological process
GO:0046881	positive regulation of follicle-stimulating hormone secretion	IEA	biological process
GO:0048639	positive regulation of developmental growth	IDA	biological process
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0050810	regulation of steroid biosynthetic process	IEA	biological process
GO:0050892	intestinal absorption	IDA	biological process
GO:0050901	leukocyte tethering or rolling	IEA	biological process
GO:0050999	regulation of nitric-oxide synthase activity	IEA	biological process
GO:0050999	regulation of nitric-oxide synthase activity	IDA	biological process
GO:0051428	peptide hormone receptor binding	IEA	molecular function
GO:0051428	peptide hormone receptor binding	IBA	molecular function
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0051726	regulation of cell cycle	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0051897	positive regulation of protein kinase B signaling	ISS	biological process
GO:0060587	regulation of lipoprotein lipid oxidation	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0061037	negative regulation of cartilage development	IEA	biological process
GO:0070093	negative regulation of glucagon secretion	IEA	biological process
GO:0071298	cellular response to L-ascorbic acid	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0072604	interleukin-6 secretion	IDA	biological process
GO:0072606	interleukin-8 secretion	IDA	biological process
GO:0090335	regulation of brown fat cell differentiation	IEA	biological process
GO:0090335	regulation of brown fat cell differentiation	ISS	biological process
GO:0098868	bone growth	IEA	biological process
GO:0098868	bone growth	ISS	biological process
GO:1900015	regulation of cytokine production involved in inflammatory response	IDA	biological process
GO:1900180	regulation of protein localization to nucleus	IEA	biological process
GO:1900745	positive regulation of p38MAPK cascade	IDA	biological process
GO:1904651	positive regulation of fat cell apoptotic process	IEA	biological process
GO:1990051	activation of protein kinase C activity	IDA	biological process
GO:2000366	positive regulation of STAT protein import into nucleus	IEA	biological process
GO:2000366	positive regulation of STAT protein import into nucleus	IBA	biological process
GO:2000379	positive regulation of reactive oxygen species metabolic process	IEA	biological process
GO:2000486	negative regulation of glutamine transport	IEA	biological process
GO:2000491	positive regulation of hepatic stellate cell activation	IEA	biological process
GO:0001525	angiogenesis	IDA	biological process
GO:0001525	angiogenesis	IDA	biological process
GO:0001890	placenta development	IDA	biological process
GO:0001936	regulation of endothelial cell proliferation	IDA	biological process
GO:0005179	hormone activity	IBA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0006112	energy reserve metabolic process	TAS	biological process
GO:0006629	lipid metabolic process	IBA	biological process
GO:0007260	tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0008343	adult feeding behavior	ISS	biological process
GO:0010507	negative regulation of autophagy	IDA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0019953	sexual reproduction	IMP	biological process
GO:0030217	T cell differentiation	ISS	biological process
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0032099	negative regulation of appetite	ISS	biological process
GO:0032310	prostaglandin secretion	IDA	biological process
GO:0032814	regulation of natural killer cell activation	IDA	biological process
GO:0032817	regulation of natural killer cell proliferation	IDA	biological process
GO:0032868	response to insulin	IBA	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	ISS	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	IBA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0042269	regulation of natural killer cell mediated cytotoxicity	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	ISS	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0044320	cellular response to leptin stimulus	IDA	biological process
GO:0045765	regulation of angiogenesis	IDA	biological process
GO:0046325	negative regulation of glucose import	IDA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IDA	biological process
GO:0046850	regulation of bone remodeling	ISS	biological process
GO:0048639	positive regulation of developmental growth	IDA	biological process
GO:0050892	intestinal absorption	IDA	biological process
GO:0050999	regulation of nitric-oxide synthase activity	IDA	biological process
GO:0051428	peptide hormone receptor binding	IBA	molecular function
GO:0051726	regulation of cell cycle	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	ISS	biological process
GO:0072604	interleukin-6 secretion	IDA	biological process
GO:0072606	interleukin-8 secretion	IDA	biological process
GO:0090335	regulation of brown fat cell differentiation	ISS	biological process
GO:0098868	bone growth	ISS	biological process
GO:1900015	regulation of cytokine production involved in inflammatory response	IDA	biological process
GO:1900745	positive regulation of p38MAPK cascade	IDA	biological process
GO:1990051	activation of protein kinase C activity	IDA	biological process
GO:2000366	positive regulation of STAT protein import into nucleus	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04152	AMPK signaling pathway
hsa04080	Neuroactive ligand-receptor interaction
hsa04060	Cytokine-cytokine receptor interaction
hsa04920	Adipocytokine signaling pathway
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Cancer	GAD: 12712467
Cancer (bladder)	GAD: 19692168
Cancer (colon)	GAD: 18992263
Cancer (colorectal)	GAD: 19273568
Cancer (endometrial)	GAD: 19886360
Cancer (esophageal)	GAD: 18398047
Cancer (lung)	GAD: 16630717
Cancer (lymphoma)	GAD: 15159310
Cancer (prostate)	GAD: 15042602
Cancer (Squamous cell)	GAD: 18855010
Cancer (breast)	GAD: 12712467
Hypertension	GAD: 12050272
Cardiovascular disease	GAD: 16261186
Behcet's disease	GAD: 16786343
Multiple sclerosis	GAD: 19604093
Psoriasis	GAD: 18173522
Asthma	GAD: 19191138
Churg-Strauss Syndrome	GAD: 20185531
Diabetes	GAD: 12732844
Fatty liver	GAD: 20492333
Insulin resistance	GAD: 10490782
Metabolic syndrome	GAD: 15978856
Obesity	GAD: 12187394
Dyslipidemias	GAD: 18725053
Bone diseases	GAD: 19453261
Amyotrophic lateral sclerosis (ALS)	GAD: 18608101
Autism	GAD: 19058789
Bulimia	GAD: 20468064
Depression	GAD: 19382181
Eating disorders	GAD: 17192493
Eating disorders	GAD: 17192493
Psychological disorders	GAD: 19086053
Schizophrenia	GAD: 18681781
Several psychiatric disorders	GAD: 19086053
Attention deficit disorder conduct disorder oppositional defiant disorder	GAD: 11140838
Albuminuria	GAD: 20140086
Kidney diseases	GAD: 18242170
HELLP Syndrome	GAD: 19634986
Preeclampsia	GAD: 15544427
Amenorrhoea	INFBASE: 22252944
Pelvic endometriosis	INFBASE: 20504092
Infertility	INFBASE: 20504092
Defective endometrial receptivity	INFBASE: 25935494
Endometrial receptivity	INFBASE: 25450293
Endometriosis	INFBASE: 20047585
Endometriosis-associated infertility	INFBASE: 20825374
Enhanced fertility	INFBASE: 24215851
Female infertility	INFBASE: 21848410
Hypogonadotropic hypogonadism	INFBASE: 22343341
Recurrent implantation failure (RIF)	INFBASE: 26952510
Hypothalamic amenorrhoea	INFBASE: 12151434
Primary infertility	INFBASE: 18665375
Polycystic ovary syndrome (PCOS)	INFBASE: 26051098
Ovarian endometriosis	INFBASE: 25797583
Ovarian function	INFBASE: 10802080
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 15374699
Recurrent pregnancy loss (RPL)	INFBASE: 26952510
Premature ovarian failure (POF)	INFBASE: 19609224
Polycystic ovary syndrome (PCOS)	INFBASE: 10561001
Ovarian endometriosis	INFBASE: 19544117
Unexplained infertility	INFBASE: 17485120
Endometriosis	INFBASE: 15465848
Hypergonadotropic hypogonadism	MIK: 12950408
Asthenozoospermia	MIK: 25419396
Leukocytospermia	MIK: 25081128
Obstructive azoospermia	MIK: 17212806
Male factor infertility	MIK: 15944217
Varicocele	MIK: 25081128
Sertoli cell only syndrome (SCOS)	MIK: 17212806
Oligozoospermia	MIK: 17714215
Azoospermia	MIK: 21735645
Chorioamnionitis	GAD: 20452482
Chronic endometritis	INFBASE: 26952510
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Chronic renal failure	GAD: 21085059
Azoospermia	MIK: 16025864
Hypergonadotrophic hypogonadism	MIK: 12950408
Asthenozoospermia	MIK: 25419396
Male infertility	MIK: 21777525
Obstructive azoospermia	MIK: 17212806
Sertoli cell-only syndrome (SCO)	MIK: 17212806
Oligospermia	MIK: 17212806
Varicocele	MIK: 17212806
Teratozoospermia	MIK: 17327269
Leucocytospermia	MIK: 25081128

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15944217	Male infertility				Male infertility
25419396	Idiopathic asthenozoospermia			156 (79 asthenozoospermic men, 77 normozoospermic men)	Male infertility
25081128	Varicocele, leucocytospermia			184 (74 varicocele (VC) patients, 70 leucocytospermia patients, 40 normospermic men as controls)	Male infertility	LEP TNF-?
21777525	Male infertility			154 (24 fertile, 19 polyzoospermic, 26 teratozoospermic, 27 astheno-teratozoospermic, 18 oligozoospermic, 18 oligo-astheno-teratozoospermic, 11 obstructive azoospermic, 11 non-obstructive azoospermic)	Male infertility
21735645	Azoospermia			116 (45 patients with diagnosed OA, 41 with unexplained NOA and 30 men with normal semen parameters as controls)	Male infertility
17714215	Oligozoospermia, Male infertility			80 (30 fertile normozoospermia as a control, 50 infertile oligozoospermia)	Male infertility
17212806	Obstructive azoospermia, Sertoli cell-only syndrome (SCO), oligospermia, varicocele			51(5 fertile volunteers, 8 with obstructive azoospermia (OA), 6 with Sertoli cell-only syndrome (SCO), 32 oligospermic patients with varicocele testis)	Male infertility
17209884	Male infertility			210 (42 men with non-obstructive azoospermia, 15 men with obstructive azoospermia, 68 men with oligoasthenoteratozoospermia and 85 men with normozoospermia)	Male infertility
12950408	Hypergonadotrophic hypogonadism				Male infertility
16025864	Azoospermia			25 (20 azoospermic infertile men, 5 fertile patients)	Male infertility	LEP
27813378	Idiopathic male infertility	rs10244329	Sloveni an, Ser bia and Macedo nia	981 (572 infertile patietns, 409 controls)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)