Gonadal Dysgenesis Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0685837
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Genes

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

Symbol Name
AMH anti-Mullerian hormone
APOD apolipoprotein D
AR androgen receptor
BCL10 B-cell CLL/lymphoma 10
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BMP15 bone morphogenetic protein 15
CAT catalase
CBX2 chromobox homolog 2
CD38 CD38 molecule
CHMP1B charged multivesicular body protein 1B
CLDN14 claudin 14
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DDX3Y DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked
DHH desert hedgehog
DHX37 DEAH (Asp-Glu-Ala-His) box polypeptide 37
DMD dystrophin
DMRT1 doublesex and mab-3 related transcription factor 1
DMRT2 doublesex and mab-3 related transcription factor 2
DMRT3 doublesex and mab-3 related transcription factor 3
ERAL1 Era-like 12S mitochondrial rRNA chaperone 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
F8 coagulation factor VIII, procoagulant component
FAM189A2 family with sequence similarity 189, member A2
FANCA Fanconi anemia, complementation group A
FANCL Fanconi anemia, complementation group L
FGF9 fibroblast growth factor 9
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FOXL2 forkhead box L2
FSHR follicle stimulating hormone receptor
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GATA4 GATA binding protein 4
GCG glucagon
GDF9 growth differentiation factor 9
GH1 growth hormone 1
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HARS1 histidyl-tRNA synthetase 1
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HLA-A major histocompatibility complex, class I, A
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
KDM6A lysine (K)-specific demethylase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LHX9 LIM homeobox 9
MAMLD1 mastermind-like domain containing 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MPLKIP M-phase specific PLK1 interacting protein
MRPS22 mitochondrial ribosomal protein S22
NIPBL Nipped-B homolog (Drosophila)
NOS2 nitric oxide synthase 2, inducible
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NUP107 nucleoporin 107kDa
PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase
PBX1 pre-B-cell leukemia homeobox 1
PGD phosphogluconate dehydrogenase
PHGDH phosphoglycerate dehydrogenase
POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)
PPIG peptidylprolyl isomerase G (cyclophilin G)
PPP2R3C protein phosphatase 2, regulatory subunit B'', gamma
PSMC3IP PSMC3 interacting protein
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RNF113A ring finger protein 113A
RPS2 ribosomal protein S2
RPS4X ribosomal protein S4, X-linked
SF1 splicing factor 1
SGOL2 shugoshin-like 2 (S. pombe)
SGSM3 small G protein signaling modulator 3
SHBG sex hormone-binding globulin
SHOX short stature homeobox
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOX3 SRY (sex determining region Y)-box 3
SOX8 SRY (sex determining region Y)-box 8
SOX9 SRY (sex determining region Y)-box 9
SPIDR scaffolding protein involved in DNA repair
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
SSRP1 structure specific recognition protein 1
STARD8 StAR-related lipid transfer (START) domain containing 8
STK11 serine/threonine kinase 11
TBC1D24 TBC1 domain family, member 24
TMEM5 transmembrane protein 5
TOE1 target of EGR1, member 1 (nuclear)
TPO thyroid peroxidase
TSPY1 testis specific protein, Y-linked 1
TSPY10 testis specific protein, Y-linked 10
TSPY3 testis specific protein, Y-linked 3
TWNK twinkle mtDNA helicase
VAMP7 vesicle-associated membrane protein 7
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
ZFPM2 zinc finger protein, FOG family member 2
ZFY zinc finger protein, Y-linked