hypogonadotrophic hypogonadism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). (Human Phenotype Ontology, HP_0000044)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000044
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Genes

30 genes associated with the hypogonadotrophic hypogonadism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANOS1 anosmin 1
CHD7 chromodomain helicase DNA binding protein 7
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DCAF17 DDB1 and CUL4 associated factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
NDN necdin, melanoma antigen (MAGE) family member
NR0B1 nuclear receptor subfamily 0, group B, member 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
PCSK1 proprotein convertase subtilisin/kexin type 1
PNPLA6 patatin-like phospholipase domain containing 6
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RNF216 ring finger protein 216
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX2 SRY (sex determining region Y)-box 2
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TFR2 transferrin receptor 2
TP63 tumor protein p63