ascites Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Accumulation of fluid in the peritoneal cavity. (Human Phenotype Ontology, HP_0001541)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001541
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Genes

56 genes associated with the ascites phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGGF1 angiogenic factor with G patch and FHA domains 1
ARHGAP31 Rho GTPase activating protein 31
BMPR1A bone morphogenetic protein receptor, type IA
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CCBE1 collagen and calcium binding EGF domains 1
CD27 CD27 molecule
CEP57 centrosomal protein 57kDa
DGUOK deoxyguanosine kinase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DNASE1L3 deoxyribonuclease I-like 3
DOCK6 dedicator of cytokinesis 6
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPCAM epithelial cell adhesion molecule
ERCC4 excision repair cross-complementation group 4
EWSR1 EWS RNA-binding protein 1
F5 coagulation factor V (proaccelerin, labile factor)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
FSHR follicle stimulating hormone receptor
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GUSB glucuronidase, beta
HFE hemochromatosis
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
JAK2 Janus kinase 2
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
MEFV Mediterranean fever
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MRPS22 mitochondrial ribosomal protein S22
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NEU1 sialidase 1 (lysosomal sialidase)
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
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)
PRKCSH protein kinase C substrate 80K-H
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
SCARB2 scavenger receptor class B, member 2
SEC63 SEC63 homolog (S. cerevisiae)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WT1 Wilms tumor 1