primary amenorrhea Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000786
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Genes

59 genes associated with the primary amenorrhea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANOS1 anosmin 1
AR androgen receptor
BMP15 bone morphogenetic protein 15
BMPR1B bone morphogenetic protein receptor, type IB
CHD7 chromodomain helicase DNA binding protein 7
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DHH desert hedgehog
DUSP6 dual specificity phosphatase 6
ESR1 estrogen receptor 1
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FLRT3 fibronectin leucine rich transmembrane protein 3
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
GNRHR gonadotropin-releasing hormone receptor
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IL17RD interleukin 17 receptor D
ITGA8 integrin, alpha 8
KISS1R KISS1 receptor
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LHX4 LIM homeobox 4
NDN necdin, melanoma antigen (MAGE) family member
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
PAX2 paired box 2
PCSK1 proprotein convertase subtilisin/kexin type 1
POF1B premature ovarian failure, 1B
POLG polymerase (DNA directed), gamma
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PSMC3IP PSMC3 interacting protein
RAD21 RAD21 homolog (S. pombe)
RET ret proto-oncogene
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SPRY4 sprouty homolog 4 (Drosophila)
SRY sex determining region Y
STAG3 stromal antigen 3
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
WDR11 WD repeat domain 11
WT1 Wilms tumor 1