Azoospermia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. (Experimental Factor Ontology, EFO_0000279)
External Link https://www.disgenet.org/browser/0/1/0/C0004509
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Genes

241 genes associated with the disease Azoospermia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
ADGRG2 adhesion G protein-coupled receptor G2
ALB albumin
ALPI alkaline phosphatase, intestinal
ALPP alkaline phosphatase, placental
AMH anti-Mullerian hormone
ANK1 ankyrin 1, erythrocytic
ANO1 anoctamin 1, calcium activated chloride channel
ANOS1 anosmin 1
AR androgen receptor
ART3 ADP-ribosyltransferase 3
BCL10 B-cell CLL/lymphoma 10
BCL2 B-cell CLL/lymphoma 2
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BOLL boule-like RNA-binding protein
BPY2 basic charge, Y-linked, 2
BPY2B basic charge, Y-linked, 2B
BPY2C basic charge, Y-linked, 2C
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD2 bromodomain containing 2
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C7ORF72 chromosome 7 open reading frame 72
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CATSPER2 cation channel, sperm associated 2
CCNA1 cyclin A1
CD24 CD24 molecule
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CDK2 cyclin-dependent kinase 2
CDY1 chromodomain protein, Y-linked, 1
CDY2A chromodomain protein, Y-linked, 2A
CEP19 centrosomal protein 19kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DAZ1 deleted in azoospermia 1
DAZ2 deleted in azoospermia 2
DAZ3 deleted in azoospermia 3
DAZL deleted in azoospermia-like
DDX25 DEAD (Asp-Glu-Ala-Asp) box helicase 25
DDX3Y DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked
DMPK dystrophia myotonica-protein kinase
DMRT1 doublesex and mab-3 related transcription factor 1
DMRT3 doublesex and mab-3 related transcription factor 3
DNAH1 dynein, axonemal, heavy chain 1
DNAH9 dynein, axonemal, heavy chain 9
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DPP6 dipeptidyl-peptidase 6
EIF1AY eukaryotic translation initiation factor 1A, Y-linked
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ESR1 estrogen receptor 1
ESX1 ESX homeobox 1
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FGFR3 fibroblast growth factor receptor 3
FKBP4 FK506 binding protein 4, 59kDa
FKBP6 FK506 binding protein 6, 36kDa
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
GATA4 GATA binding protein 4
GCG glucagon
GGCT gamma-glutamylcyclotransferase
GJA1 gap junction protein, alpha 1, 43kDa
GOPC golgi-associated PDZ and coiled-coil motif containing
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2A1L general transcription factor IIA, 1-like
H2BFWT H2B histone family, member W, testis-specific
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HIST3H3 histone cluster 3, H3
HMOX1 heme oxygenase 1
HORMAD1 HORMA domain containing 1
HOXA10 homeobox A10
HPGDS hematopoietic prostaglandin D synthase
HSF2 heat shock transcription factor 2
HSFY1 heat shock transcription factor, Y-linked 1
HSFY2 heat shock transcription factor, Y linked 2
HSPA2 heat shock 70kDa protein 2
IAPP islet amyloid polypeptide
KATNAL1 katanin p60 subunit A-like 1
KDM5D lysine (K)-specific demethylase 5D
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLK1 kallikrein 1
LEP leptin
LHCGR luteinizing hormone/choriogonadotropin receptor
LIPE lipase, hormone-sensitive
LMTK2 lemur tyrosine kinase 2
LRWD1 leucine-rich repeats and WD repeat domain containing 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAGEB4 melanoma antigen family B4
MAGT1 magnesium transporter 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK3 mitogen-activated protein kinase 3
MARCKSL1 MARCKS-like 1
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCM8 minichromosome maintenance complex component 8
MEI1 meiosis inhibitor 1
MEIOB meiosis specific with OB domains
MICA MHC class I polypeptide-related sequence A
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MRAP melanocortin 2 receptor accessory protein
MSC musculin
MSH3 mutS homolog 3
MSH5 mutS homolog 5
MSMB microseminoprotein, beta-
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NANOS1 nanos homolog 1 (Drosophila)
NLRP14 NLR family, pyrin domain containing 14
NNT nicotinamide nucleotide transhydrogenase
NOS3 nitric oxide synthase 3 (endothelial cell)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR5A1 nuclear receptor subfamily 5, group A, member 1
OAT ornithine aminotransferase
OCRL oculocerebrorenal syndrome of Lowe
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PARP2 poly (ADP-ribose) polymerase 2
PCNA proliferating cell nuclear antigen
PGD phosphogluconate dehydrogenase
PGK2 phosphoglycerate kinase 2
PIWIL1 piwi-like RNA-mediated gene silencing 1
PIWIL4 piwi-like RNA-mediated gene silencing 4
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLCH2 phospholipase C, eta 2
PLK4 polo-like kinase 4
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PRDM9 PR domain containing 9
PRM1 protamine 1
PRM2 protamine 2
PROM1 prominin 1
PRY PTPN13-like, Y-linked
PRY2 PTPN13-like, Y-linked 2
PSMC3IP PSMC3 interacting protein
PYGO2 pygopus family PHD finger 2
RAD21L1 RAD21-like 1 (S. pombe)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAP1A RAP1A, member of RAS oncogene family
RBM5 RNA binding motif protein 5
RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1
RBMY1D RNA binding motif protein, Y-linked, family 1, member D
REC8 REC8 meiotic recombination protein
RFWD3 ring finger and WD repeat domain 3
RPS4Y2 ribosomal protein S4, Y-linked 2
SBF1 SET binding factor 1
SCP2 sterol carrier protein 2
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEPT12 septin 12
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SETX senataxin
SIN3A SIN3 transcription regulator family member A
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SLX4 SLX4 structure-specific endonuclease subunit
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1)
SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1
SOX5 SRY (sex determining region Y)-box 5
SOX9 SRY (sex determining region Y)-box 9
SPATA17 spermatogenesis associated 17
SPATA25 spermatogenesis associated 25
SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)
SPO11 SPO11 meiotic protein covalently bound to DSB
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
STAR steroidogenic acute regulatory protein
STEAP3 STEAP family member 3, metalloreductase
STK11 serine/threonine kinase 11
STRA8 stimulated by retinoic acid 8
STRC stereocilin
STS steroid sulfatase (microsomal), isozyme S
SYCP3 synaptonemal complex protein 3
TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TDRD7 tudor domain containing 7
TDRD9 tudor domain containing 9
TEX101 testis expressed 101
TEX11 testis expressed 11
TEX14 testis expressed 14
TEX15 testis expressed 15
TFRC transferrin receptor
THRB thyroid hormone receptor, beta
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TNP1 transition protein 1 (during histone to protamine replacement)
TNP2 transition protein 2 (during histone to protamine replacement)
TSPY1 testis specific protein, Y-linked 1
TSPYL1 TSPY-like 1
TUSC1 tumor suppressor candidate 1
TXNDC2 thioredoxin domain containing 2 (spermatozoa)
TXNDC8 thioredoxin domain containing 8 (spermatozoa)
TXNRD2 thioredoxin reductase 2
UBE2B ubiquitin-conjugating enzyme E2B
UBE2T ubiquitin-conjugating enzyme E2T
UBR2 ubiquitin protein ligase E3 component n-recognin 2
USP2 ubiquitin specific peptidase 2
USP26 ubiquitin specific peptidase 26
USP9Y ubiquitin specific peptidase 9, Y-linked
VAMP7 vesicle-associated membrane protein 7
VCY variable charge, Y-linked
WASL Wiskott-Aldrich syndrome-like
WIPF3 WAS/WASL interacting protein family, member 3
WLS wntless Wnt ligand secretion mediator
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YBX2 Y box binding protein 2
ZFPM2 zinc finger protein, FOG family member 2
ZMYND15 zinc finger, MYND-type containing 15