abnormality of the uterus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the uterus. (Human Phenotype Ontology, HP_0000130)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000130
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
APC adenomatous polyposis coli
AXIN1 axin 1
AXIN2 axin 2
B3GALTL beta 1,3-galactosyltransferase-like
BAX BCL2-associated X protein
BMP15 bone morphogenetic protein 15
BMPR1A bone morphogenetic protein receptor, type IA
BMPR1B bone morphogenetic protein receptor, type IB
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COL3A1 collagen, type III, alpha 1
CREBBP CREB binding protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
DCC DCC netrin 1 receptor
DHCR7 7-dehydrocholesterol reductase
DHH desert hedgehog
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLCN folliculin
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GATA3 GATA binding protein 3
GRIP1 glutamate receptor interacting protein 1
HCCS holocytochrome c synthase
HMGA2 high mobility group AT-hook 2
HNF1B HNF1 homeobox B
HOXA13 homeobox A13
HYLS1 hydrolethalus syndrome 1
IRF6 interferon regulatory factor 6
ITGA8 integrin, alpha 8
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LRP2 low density lipoprotein receptor-related protein 2
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
MCC mutated in colorectal cancers
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MNX1 motor neuron and pancreas homeobox 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PAX2 paired box 2
PDGFRL platelet-derived growth factor receptor-like
PHGDH phosphoglycerate dehydrogenase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PTEN phosphatase and tensin homolog
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRJ protein tyrosine phosphatase, receptor type, J
RAD54B RAD54 homolog B (S. cerevisiae)
RARB retinoic acid receptor, beta
RBM8A RNA binding motif protein 8A
RET ret proto-oncogene
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SALL1 spalt-like transcription factor 1
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
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SMAD3 SMAD family member 3
STK11 serine/threonine kinase 11
STRA6 stimulated by retinoic acid 6
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THOC6 THO complex 6
TNXB tenascin XB
TP53 tumor protein p53
WNT4 wingless-type MMTV integration site family, member 4
WNT7A wingless-type MMTV integration site family, member 7A