abnormality of the ovary Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the ovary. (Human Phenotype Ontology, HP_0000137)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000137
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Genes

128 genes associated with the abnormality of the ovary phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALMS1 Alstrom syndrome protein 1
ANTXR2 anthrax toxin receptor 2
ARL6 ADP-ribosylation factor-like 6
ATM ATM serine/threonine kinase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BMP15 bone morphogenetic protein 15
BMP4 bone morphogenetic protein 4
BMPR1A bone morphogenetic protein receptor, type IA
BRCA1 breast cancer 1, early onset
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C10ORF2 chromosome 10 open reading frame 2
CAV1 caveolin 1, caveolae protein, 22kDa
CBX2 chromobox homolog 2
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CLIP2 CAP-GLY domain containing linker protein 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
DHH desert hedgehog
DIAPH2 diaphanous-related formin 2
DMRT1 doublesex and mab-3 related transcription factor 1
DMRT2 doublesex and mab-3 related transcription factor 2
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELN elastin
EPCAM epithelial cell adhesion molecule
EWSR1 EWS RNA-binding protein 1
FGFR2 fibroblast growth factor receptor 2
FIGLA folliculogenesis specific basic helix-loop-helix
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXL2 forkhead box L2
FSHR follicle stimulating hormone receptor
GALT galactose-1-phosphate uridylyltransferase
GATA4 GATA binding protein 4
GNAS GNAS complex locus
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HNF1A HNF1 homeobox A
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFT27 intraflagellar transport 27
INSR insulin receptor
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LZTFL1 leucine zipper transcription factor-like 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSX1 msh homeobox 1
NBN nibrin
NOBOX NOBOX oogenesis homeobox
NPHP1 nephronophthisis 1 (juvenile)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OFD1 oral-facial-digital syndrome 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLG plasminogen
PMM2 phosphomannomutase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POF1B premature ovarian failure, 1B
POLG polymerase (DNA directed), gamma
POR P450 (cytochrome) oxidoreductase
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSMC3IP PSMC3 interacting protein
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RFC2 replication factor C (activator 1) 2, 40kDa
SDCCAG8 serologically defined colon cancer antigen 8
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SRY sex determining region Y
STK11 serine/threonine kinase 11
SUFU suppressor of fused homolog (Drosophila)
TBL2 transducin (beta)-like 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TRIM32 tripartite motif containing 32
TTC8 tetratricopeptide repeat domain 8
VAMP7 vesicle-associated membrane protein 7
WDPCP WD repeat containing planar cell polarity effector
WNT10A wingless-type MMTV integration site family, member 10A
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase