Primary Ovarian Insufficiency Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. (Human Disease Ontology, DOID_5426)
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Genes

77 genes associated with the Primary Ovarian Insufficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19
ADIPOQ adiponectin, C1Q and collagen domain containing
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AMHR2 anti-Mullerian hormone receptor, type II
AR androgen receptor
BMP15 bone morphogenetic protein 15
BMP4 bone morphogenetic protein 4
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRSK1 BR serine/threonine kinase 1
CARD11 caspase recruitment domain family, member 11
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CPEB1 cytoplasmic polyadenylation element binding protein 1
CXCL12 chemokine (C-X-C motif) ligand 12
CYB561 cytochrome b561
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DICER1 dicer 1, ribonuclease type III
DMC1 DNA meiotic recombinase 1
DROSHA drosha, ribonuclease type III
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FANCA Fanconi anemia, complementation group A
FMR1 fragile X mental retardation 1
FOXE1 forkhead box E1
FOXO3 forkhead box O3
FOXO4 forkhead box O4
FSHR follicle stimulating hormone receptor
FST follistatin
GDF9 growth differentiation factor 9
HK3 hexokinase 3 (white cell)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IGF2R insulin-like growth factor 2 receptor
INHA inhibin, alpha
KDR kinase insert domain receptor
LAMC1 laminin, gamma 1 (formerly LAMB2)
MIR1468 microRNA 1468
MIR196A2 microRNA 196a-2
MIR518C microRNA 518c
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYADML myeloid-associated differentiation marker-like (pseudogene)
NOS3 nitric oxide synthase 3 (endothelial cell)
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRXN1 neurexin 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PCDH11X protocadherin 11 X-linked
POLG polymerase (DNA directed), gamma
POU5F1 POU class 5 homeobox 1
PRLR prolactin receptor
RAN RAN, member RAS oncogene family
SALL4 spalt-like transcription factor 4
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SF1 splicing factor 1
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase
SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2
SYCE1 synaptonemal complex central element protein 1
TG thyroglobulin
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
TGIF2LX TGFB-induced factor homeobox 2-like, X-linked
TNF tumor necrosis factor
TYMS thymidylate synthetase
VEGFA vascular endothelial growth factor A
WNT5A wingless-type MMTV integration site family, member 5A
XPO5 exportin 5