• Gene id: 3106

Gene Summary

• Gene Symbol: HLA-B   Gene   UCSC   Ensembl
• Aliases: AS, B-4901, HLAB
• Gene name: major histocompatibility complex, class I, B
• Alternate names: major histocompatibility complex, class I, B, HLA class I antigen HLA-B, HLA class I histocompatibility antigen, B alpha chain, MHC HLA-B cell surface glycoprotein, MHC HLA-B transmembrane glycoprotein, MHC class 1 antigen, MHC class I antigen HLA-B alpha,
• Gene location: 6p21.33 (31357244: 31353865)     Exons: 8     NC_000006.12
• Gene summary(Entrez): HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the
• OMIM: 142830

SNPs

rs4997052

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

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

Protein Summary

• Protein general information: P01889  
  • Name: HLA class I histocompatibility antigen, B 7 alpha chain (MHC class I antigen B*7)
  • Length: 362  
  • Mass: 40,460
  • Tissue specificity: Isoform 1 is the predominant isoform in serum but is undetectable in follicular fluid. {ECO
• Sequence:

  MLVMAPRTVLLLLSAALALTETWAGSHSMRYFYTSVSRPGRGEPRFISVGYVDDTQFVRFDSDAASPREEPRAPW
  IEQEGPEYWDRNTQIYKAQAQTDRESLRNLRGYYNQSEAGSHTLQSMYGCDVGPDGRLLRGHDQYAYDGKDYIAL
  NEDLRSWTAADTAAQITQRKWEAAREAEQRRAYLEGECVEWLRRYLENGKDKLERADPPKTHVTHHPISDHEATL
  RCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDRTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEP
  SSQSTVPIVGIVAGLAVLAVVVIGAVVAAVMCRRKSSGGKGGSYSQAACSDSAQGSDVSLTA

• Structural information:
  • Protein Domains: Ig-like (209-295)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR003597   IPR011161  IPR037055  IPR011162  IPR001039  IPR010579  
  • Prosite: PS50835 PS00290
  • PDB: 3VCL 4U1H 4U1K 5EO0 5EO1
  • PDBsum: 3VCL 4U1H 4U1K 5EO0 5EO1
  • STRING: ENSP00000399168
• Other Databases: GeneCards:  HLA-B  Malacards:  HLA-B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002667	regulation of T cell anergy	IMP	biological process
GO:0005102	receptor binding	IPI	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0006955	immune response	NAS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032655	regulation of interleukin-12 production	IMP	biological process
GO:0032675	regulation of interleukin-6 production	IMP	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042605	peptide antigen binding	ISS	molecular function
GO:0042612	MHC class I protein complex	ISS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2001198	regulation of dendritic cell differentiation	IMP	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002667	regulation of T cell anergy	IMP	biological process
GO:0005102	receptor binding	IPI	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0006955	immune response	IEA	biological process
GO:0006955	immune response	NAS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032655	regulation of interleukin-12 production	IMP	biological process
GO:0032675	regulation of interleukin-6 production	IMP	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042605	peptide antigen binding	IEA	molecular function
GO:0042605	peptide antigen binding	ISS	molecular function
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0042612	MHC class I protein complex	ISS	cellular component
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2001198	regulation of dendritic cell differentiation	IMP	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002667	regulation of T cell anergy	IMP	biological process
GO:0005102	receptor binding	IPI	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0006955	immune response	NAS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032655	regulation of interleukin-12 production	IMP	biological process
GO:0032675	regulation of interleukin-6 production	IMP	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042605	peptide antigen binding	ISS	molecular function
GO:0042612	MHC class I protein complex	ISS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2001198	regulation of dendritic cell differentiation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa00565	Ether lipid metabolism
hsa00590	Arachidonic acid metabolism
hsa00590	Arachidonic acid metabolism
hsa00260	Glycine, serine and threonine metabolism
hsa00510	N-Glycan biosynthesis
hsa00531	Glycosaminoglycan degradation
hsa03420	Nucleotide excision repair
hsa04015	Rap1 signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04340	Hedgehog signaling pathway
hsa04350	TGF-beta signaling pathway
hsa04390	Hippo signaling pathway
hsa04370	VEGF signaling pathway
hsa04371	Apelin signaling pathway
hsa04371	Apelin signaling pathway
hsa04630	JAK-STAT signaling pathway
hsa04514	Cell adhesion molecules
hsa04144	Endocytosis
hsa04145	Phagosome
hsa04218	Cellular senescence
hsa04650	Natural killer cell mediated cytotoxicity
hsa04612	Antigen processing and presentation
hsa05203	Viral carcinogenesis
hsa05320	Autoimmune thyroid disease
hsa05330	Allograft rejection
hsa05332	Graft-versus-host disease
hsa05416	Viral myocarditis
hsa04940	Type I diabetes mellitus
hsa05166	Human T-cell leukemia virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05168	Herpes simplex virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05169	Epstein-Barr virus infection
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Cancer (brain)	GAD: 19487887
Cancer (cervical)	GAD: 17433060
Cancer (esophageal)	GAD: 19392852
Cancer (glioblastoma)	GAD: 16103458
Cancer (head and neck)	GAD: 16857416
Cancer (Hematologic)	GAD: 18347914
Cancer (Kaposi's sarcoma)	GAD: 15902698
Cancer (leukemia)	GAD: 15854278
Cancer (lung)	GAD: 15652424
Cancer (lymphoma)	GAD: 15546341
Cancer (melanoma)	GAD: 16101833
Cancer (nasopharyngeal)	GAD: 19683024
Cancer (Neuroblastoma)	GAD: 19934297
Cancer (ovarian)	GAD: 17661908
Cancer (Squamous cell)	GAD: 11474249
Paraneoplastic syndromes	GAD: 20547426
Cancer (breast)	GAD: 19196481
Cancer	GAD: 19925877
Cancer (Adenocarcinoma)	GAD: 20548248
Cancer (B-Cell lymphomas)	GAD: 17311253
Aneurysm	GAD: 12917841
Cardiovascular disease	GAD: 15213074
Hypertension	GAD: 19165231
Hemochromatosis	GAD: 11840200
Neuropathy	GAD: 16053028
Primary biliary cirrhosis	GAD: 15975271
Primary sclerosing cholangitis	GAD: 6600227
Graves disease	GAD: 2567295
Macular degeneration	GAD: 19728932
Trachoma	GAD: 18824733
Eye diseases	GAD: 18385790
Agranulocytosis	GAD: 11266078
AHG deficiency disease	GAD: 20410273
Anemia	GAD: 18689790
Aplastic anemia	GAD: 19860590
Hemophilia	GAD: 18958335
Sarcoidosis	GAD: 16362110
Mucocutaneous lymph node syndrome	GAD: 18064508
Lymphoproliferative disorders	GAD: 18344933
Idiopathic thrombocytopenic purpura	GAD: 20141578
Acute anterior uveitis	GAD: 9744378
Addison's disease	GAD: 20631027
Alopecia areata	GAD: 16185849
Alveolitis	GAD: 16362107
Ankylosing spondylitis	GAD: 12476735
Arthritis	GAD: 11229461
Behcet's disease	GAD: 19395541
Asthma	GAD: 15853903
Autoimmune diseases	GAD: 18657583
Axial spondyloarthropathy	GAD: 19850842
Behcet's disease	GAD: 18517005
Ulcerative colitis	GAD: 19493234
Celiac disease	GAD: 15496201
Chronic ulcerative colitis	GAD: 12878361
Churg-Strauss Syndrome	GAD: 17763415
Crohn's disease	GAD: 14530653
Pancreatitis	GAD: 11984513
Sjogren's syndrome	GAD: 19181658
Ulcerative colitis	GAD: 19493234
Multiple sclerosis	GAD: 14504973
Scleroderma	GAD: 20603050
Periodontitis	GAD: 12941076
Psoriasis	GAD: 15245541
Psoriatic arthritis	GAD: 15554365
Systemic lupus erythematosus (SLE)	GAD: 19851445
Behcet's disease	KEGG: H01476
Abacavir hypersensitivity	OMIM: 142830
Behcet's disease	GAD: 17284227
Hypersensitivity	GAD: 18684101
Diabetes	GAD: 12021089
Biliary cirrhosis	GAD: 19221531
Biliary atresia	GAD: 12100571
Osteoporosis	GAD: 17498269
Spondylarthropathies	GAD: 18578977
Spondylarthropathies	GAD: 12117677
Synovitis	OMIM: 142830
Synovitis	OMIM: 142830
Synovitis	OMIM: 142830
Spondylarthropathies	OMIM: 142830
Ankylosing spondylitis	GAD: 19874811
Myositis	GAD: 19690132
Dermatomyositis	GAD: 17586554
Rheumatic diseases	GAD: 19407364
Paraparesis	GAD: 20483367
Moyamoya disease	GAD: 14676447
Giant cell arteritis	GAD: 17003171
Uveomeningoencephalitic syndrome	GAD: 18571006
Myasthenia gravis	GAD: 15301866
Epilepsy	GAD: 21071176
Arthrofibrosis	GAD: 15122136
Autism	GAD: 21084121
Schizophrenia	GAD: 15949652
Bipolar disorder	GAD: 21254220
Chronic renal failure	GAD: 14700599
Kidney diseases	GAD: 18589099
Abortion	GAD: 20307907
Congenital adrenal hyperplasia	GAD: 19201236
Congenital adrenal hyperplasia	GAD: 19201236
Hypothyroidism	GAD: 15236755
Recurrent pregnancy loss (RPL)	GAD: 15304010
Recurrent pregnancy loss (RPL)	GAD: 15304010
Endometriosis	INFBASE: 18458507
Endometriosis	INFBASE: 12571436
Female infertility	INFBASE: 6594014
Female infertility	INFBASE: 9512225
Recurrent pregnancy loss (RPL)	INFBASE: 3252654
Recurrent implantation failure (RIF)	INFBASE: 25367742
Hirsutism	INFBASE: 15004406
Polycystic ovary syndrome (PCOS)	INFBASE: 21851420
Primary ovarian insufficiency (POI)	INFBASE: 21811055
Recurrent pregnancy loss (RPL)	INFBASE: 9380972
Turners syndrome	INFBASE: 2491644
Azoospermia	MIK: 3162459
Gonadal dysgenesis	MIK: 7834897
Azoospermia	MIK: 9598492
Male factor infertility	MIK: 7834897
Male factor infertility	MIK: 9598492
Male factor infertility	MIK: 21870185
Male factor infertility	MIK: 2609327
Sperm antibodies and human leukocyte antigens in couples with early spontaneous abortions	MIK: 2880818
Oligozoospermia	MIK: 3162459
Unexplained infertility	MIK: 10668156
Chronic obstructive pulmonary disease (COPD)	GAD: 16291075
Pulmonary fibrosis	GAD: 16133177
Pulmonary hypertension	GAD: 15640334
Dermatitis	GAD: 11737038
Keloids	GAD: 19932885
Pityriasis rosea	GAD: 16405603
Vitiligo	GAD: 16922942
Varicose ulcer	GAD: 20854863
Epidermal Necrolysis	GAD: 19018717
Pemphigus vulgaris	GAD: 12878355
Urticaria	GAD: 18520158
Stevens-Johnson Syndrome	GAD: 19556444
Toxic Stevens-Johnson Syndrome	GAD: 19668019
Barrett's esophagus	GAD: 15932368
Diffuse panbonchiolitis	GAD: 18846964
Bronchiectasis	GAD: 18241227
Hemoglobinuria	GAD: 18396213
Nephrosis	GAD: 18949728
Oligospermia	MIK: 3162459
Gonadal dysgenesis	MIK: 7834897
Azoospermia	MIK: 9598492
Male infertility	MIK: 21870185
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 10668156

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
7834897	Gonadal dysgenesis			50 patients with gonadal dysgenesis (GD), 50 patients thyroglobulin and/or microsomal antibodies	Male infertility	HLA-A B and DR
2609327	Male infertility		Caucasi an	80 ( 22 infertile with sperm autoantibodies, 58 infertile with sperm autoantibodies)	Male infertility	HLA-A B and DR
21870185	Idiopathic male infertility		Han Chi nese	261 (109 patients with idiopathic male infertility, 152 healthy controls)	Male infertility
10668156	Unexplained infertility			76 couples (52 couples with unexplained infertility, 15 infertile and 9 fertile couples)	Male infertility, Female infertility
9598492	Idiopathic azoospermia		Japanes e	1281 (1,216 healthy men, 65 infertile Japanese men with idiopathic azoospermia)	Male infertility	HLA-A33 B13 and B44
6222922	Unexplained infertility			14 couples with unexplained infertility	Male infertility, Female infertility	HLA-B
6600688	Male infertility			153 (103 infertile couples, 50 fertile couples)	Male infertility	HLA-B7 HLA-BW35
6600688	Male infertility			153 (103 infertile couples, 50 fertile couples)	Male infertility	HLA-B7 HLA-BW35
2609327	Sperm auto-antibodies (S.A.A.)		Caucasi an	80 (22 infertile men with cytotoxic S.A.A. in serum (S) and/or seminal plasma (SP), 58 infertile men without cytotoxic S.A.A. in serum (S) and/or seminal plasma (SP))	Male infertility	HLA-A HLA-B HLA-DR
30502936	Non-obstructive azoospermia	rs4997052	Han Chi nese	2638 (981 men with NOA and 1,657 normal fertile male controls)	Male infertility	GWAS
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)