gonadal dysgenesis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. (Human Disease Ontology, DOID_14447)
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Genes

214 genes co-occuring with the disease gonadal dysgenesis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SRY sex determining region Y 2.8184
SHOX short stature homeobox 2.78248
ZFY zinc finger protein, Y-linked 1.94924
NR5A1 nuclear receptor subfamily 5, group A, member 1 1.81826
RPS4X ribosomal protein S4, X-linked 1.8151
TSPY1 testis specific protein, Y-linked 1 1.75913
TSPY10 testis specific protein, Y-linked 10 1.73823
TSPY3 testis specific protein, Y-linked 3 1.73823
IGF1 insulin-like growth factor 1 (somatomedin C) 1.69042
DMRT1 doublesex and mab-3 related transcription factor 1 1.67412
SOX9 SRY (sex determining region Y)-box 9 1.6498
RPS4Y1 ribosomal protein S4, Y-linked 1 1.6162
DHH desert hedgehog 1.55158
NR0B1 nuclear receptor subfamily 0, group B, member 1 1.52688
PTER phosphotriesterase related 1.49701
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.34286
ZXDB zinc finger, X-linked, duplicated B 1.32279
IGFBP3 insulin-like growth factor binding protein 3 1.31493
WT1 Wilms tumor 1 1.30794
GHR growth hormone receptor 1.28217
EFHC2 EF-hand domain (C-terminal) containing 2 1.26778
RBMY1J RNA binding motif protein, Y-linked, family 1, member J 1.26211
RBMY1F RNA binding motif protein, Y-linked, family 1, member F 1.26211
BMP15 bone morphogenetic protein 15 1.26081
PAPPA pregnancy-associated plasma protein A, pappalysin 1 1.25037
DMRT3 doublesex and mab-3 related transcription factor 3 1.23212
ZXDA zinc finger, X-linked, duplicated A 1.22518
FAM189A2 family with sequence similarity 189, member A2 1.20742
AMH anti-Mullerian hormone 1.20699
SHOX2 short stature homeobox 2 1.20223
AMELY amelogenin, Y-linked 1.191
AMELX amelogenin, X-linked 1.1009
SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) 1.07614
FSHR follicle stimulating hormone receptor 1.06942
AFP alpha-fetoprotein 1.05892
AR androgen receptor 1.03535
ZFX zinc finger protein, X-linked 1.02229
C2ORF80 chromosome 2 open reading frame 80 1.01765
INS insulin 1.01427
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 0.974221
TAB3 TGF-beta activated kinase 1/MAP3K7 binding protein 3 0.966663
PRKY protein kinase, Y-linked, pseudogene 0.939119
DMRT2 doublesex and mab-3 related transcription factor 2 0.937874
FOXL2 forkhead box L2 0.933727
SHBG sex hormone-binding globulin 0.925865
GH1 growth hormone 1 0.919261
AGO2 argonaute RISC catalytic component 2 0.911845
FGF9 fibroblast growth factor 9 0.888848
PSMC3IP PSMC3 interacting protein 0.882292
CXORF21 chromosome X open reading frame 21 0.853631
MNX1 motor neuron and pancreas homeobox 1 0.824128
GHRH growth hormone releasing hormone 0.822488
ZFPM2 zinc finger protein, FOG family member 2 0.808949
STS steroid sulfatase (microsomal), isozyme S 0.792951
MAGEH1 melanoma antigen family H1 0.783116
TRH thyrotropin-releasing hormone 0.781479
UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 0.756156
CDY1 chromodomain protein, Y-linked, 1 0.754527
STRA8 stimulated by retinoic acid 8 0.754527
SUDS3 suppressor of defective silencing 3 homolog (S. cerevisiae) 0.746798
BEGAIN brain-enriched guanylate kinase-associated 0.722482
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) 0.719654
SERPINB10 serpin peptidase inhibitor, clade B (ovalbumin), member 10 0.706754
FTHL17 ferritin, heavy polypeptide-like 17 0.706754
GDF9 growth differentiation factor 9 0.704742
BGLAP bone gamma-carboxyglutamate (gla) protein 0.695504
PRKACG protein kinase, cAMP-dependent, catalytic, gamma 0.684292
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.670732
TSPYL1 TSPY-like 1 0.662784
ASMTL acetylserotonin O-methyltransferase-like 0.656441
KRTAP9-3 keratin associated protein 9-3 0.654067
TMEM5 transmembrane protein 5 0.651298
HSD17B1P1 hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1 0.649323
CDY1B chromodomain protein, Y-linked, 1B 0.636708
DCLK2 doublecortin-like kinase 2 0.617877
SERINC1 serine incorporator 1 0.613574
LHX9 LIM homeobox 9 0.604981
PAEP progestagen-associated endometrial protein 0.585108
ARSE arylsulfatase E (chondrodysplasia punctata 1) 0.583552
POMC proopiomelanocortin 0.573828
SOS2 son of sevenless homolog 2 (Drosophila) 0.567997
FSCN1 fascin actin-bundling protein 1 0.566831
PRL prolactin 0.563335
YARS tyrosyl-tRNA synthetase 0.562946
FMR1 fragile X mental retardation 1 0.559839
SERINC2 serine incorporator 2 0.55945
GATA4 GATA binding protein 4 0.55712
ACD adrenocortical dysplasia homolog (mouse) 0.545868
AMHR2 anti-Mullerian hormone receptor, type II 0.528449
TG thyroglobulin 0.526518
PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 0.51534
PHKA1 phosphorylase kinase, alpha 1 (muscle) 0.499614
MAGEB1 melanoma antigen family B1 0.491978
DAZ1 deleted in azoospermia 1 0.491978
PDE8A phosphodiesterase 8A 0.488549
CUX2 cut-like homeobox 2 0.485505
ZNF274 zinc finger protein 274 0.482084
IGFBP1 insulin-like growth factor binding protein 1 0.477909
PRKX protein kinase, X-linked 0.474119
ZNF81 zinc finger protein 81 0.461639
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 0.458619
MAMLD1 mastermind-like domain containing 1 0.456355
CTRB1 chymotrypsinogen B1 0.455224
DAZ2 deleted in azoospermia 2 0.449194
SOX3 SRY (sex determining region Y)-box 3 0.444676
CD79A CD79a molecule, immunoglobulin-associated alpha 0.4443
UBE2B ubiquitin-conjugating enzyme E2B 0.427765
F8 coagulation factor VIII, procoagulant component 0.426265
RSPO1 R-spondin 1 0.424014
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 0.418019
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 0.416896
BOK BCL2-related ovarian killer 0.40904
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 0.408666
FOXD3 forkhead box D3 0.407919
HIPK3 homeodomain interacting protein kinase 3 0.404931
PPP2R3B protein phosphatase 2, regulatory subunit B'', beta 0.403064
SPATA7 spermatogenesis associated 7 0.39598
ATRX alpha thalassemia/mental retardation syndrome X-linked 0.391513
INHBB inhibin, beta B 0.390769
ALPPL2 alkaline phosphatase, placental-like 2 0.387794
ALPP alkaline phosphatase, placental 0.387423
ALPL alkaline phosphatase, liver/bone/kidney 0.387051
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 0.381852
PRRX1 paired related homeobox 1 0.372587
OMA1 OMA1 zinc metallopeptidase 0.368888
IL3RA interleukin 3 receptor, alpha (low affinity) 0.360395
EPB41L3 erythrocyte membrane protein band 4.1-like 3 0.359657
USP9Y ubiquitin specific peptidase 9, Y-linked 0.358183
GGT1 gamma-glutamyltransferase 1 0.357814
NIPBL Nipped-B homolog (Drosophila) 0.356341
JCHAIN joining chain of multimeric IgA and IgM 0.350452
ADAM12 ADAM metallopeptidase domain 12 0.335778
PURA purine-rich element binding protein A 0.334315
IGFALS insulin-like growth factor binding protein, acid labile subunit 0.32993
DIAPH2 diaphanous-related formin 2 0.329565
TPO thyroid peroxidase 0.328105
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0.326646
CD5L CD5 molecule-like 0.326281
XPO4 exportin 4 0.324823
STAT2 signal transducer and activator of transcription 2, 113kDa 0.318999
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 0.315729
TMEM27 transmembrane protein 27 0.308842
TES testin LIM domain protein 0.307757
PTH parathyroid hormone 0.292975
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6 0.285802
GCG glucagon 0.285086
GZMK granzyme K (granzyme 3; tryptase II) 0.28151
TOX thymocyte selection-associated high mobility group box 0.280796
PZP pregnancy-zone protein 0.279367
VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) 0.277584
NLGN4X neuroligin 4, X-linked 0.270819
CENPC centromere protein C 0.260538
DMD dystrophin 0.25877
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 0.257711
ISPD isoprenoid synthase domain containing 0.257358
SALL4 spalt-like transcription factor 4 0.256299
LEP leptin 0.250311
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 0.249608
HLA-A major histocompatibility complex, class I, A 0.248203
EMX2 empty spiracles homeobox 2 0.237706
ANTXR2 anthrax toxin receptor 2 0.236312
CXXC5 CXXC finger protein 5 0.235616
BIN3 bridging integrator 3 0.224884
F9 coagulation factor IX 0.218034
LHX4 LIM homeobox 4 0.215992
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 0.213283
GATA2 GATA binding protein 2 0.210925
NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 0.210589
GDF6 growth differentiation factor 6 0.210253
XG Xg blood group 0.209248
FSHB follicle stimulating hormone, beta polypeptide 0.199356
SMC1A structural maintenance of chromosomes 1A 0.199356
CENPE centromere protein E, 312kDa 0.196139
PNMA2 paraneoplastic Ma antigen 2 0.192344
IGHA1 immunoglobulin heavy constant alpha 1 0.189244
LGALS13 lectin, galactoside-binding, soluble, 13 0.189244
INHA inhibin, alpha 0.182957
MCM8 minichromosome maintenance complex component 8 0.180367
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.176757
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 0.176485
TPH2 tryptophan hydroxylase 2 0.170299
USP9X ubiquitin specific peptidase 9, X-linked 0.170054
KLHL17 kelch-like family member 17 0.166995
ESR2 estrogen receptor 2 (ER beta) 0.163938
IGBP1 immunoglobulin (CD79A) binding protein 1 0.163317
MEA1 male-enhanced antigen 1 0.162306
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa 0.162306
BGN biglycan 0.160761
CUX1 cut-like homeobox 1 0.159302
FST follistatin 0.157929
MFN2 mitofusin 2 0.145452
MPZ myelin protein zero 0.144375
PMP22 peripheral myelin protein 22 0.144038
MARS methionyl-tRNA synthetase 0.142238
SOS1 son of sevenless homolog 1 (Drosophila) 0.131228
ALLC allantoicase 0.131045
GLRX glutaredoxin (thioltransferase) 0.130952
MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 0.130905
MLH3 mutL homolog 3 0.130693
AIRE autoimmune regulator 0.130304
RBP4 retinol binding protein 4, plasma 0.130229
NR1I2 nuclear receptor subfamily 1, group I, member 2 0.130029
SGOL1 shugoshin-like 1 (S. pombe) 0.129901
ATL1 atlastin GTPase 1 0.129694
GRB10 growth factor receptor-bound protein 10 0.129642
SET SET nuclear proto-oncogene 0.129323
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 0.12927
BAGE2 B melanoma antigen family, member 2 0.129105
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor 0.12894
PGK1 phosphoglycerate kinase 1 0.127684
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 0.127404
LHB luteinizing hormone beta polypeptide 0.127185
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.126958
GGT2 gamma-glutamyltransferase 2 0.126664