gonadal dysgenesis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0000133
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Genes

15 genes associated with the gonadal dysgenesis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
DHH desert hedgehog
FGFR3 fibroblast growth factor receptor 3
FSHR follicle stimulating hormone receptor
GATA4 GATA binding protein 4
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
SRY sex determining region Y
STK11 serine/threonine kinase 11
TMEM5 transmembrane protein 5
VAMP7 vesicle-associated membrane protein 7
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase