abnormal biliary tract morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A structural abnormality of the biliary tree. (Human Phenotype Ontology, HP_0012440)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012440
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Genes

26 genes associated with the abnormal biliary tract morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BMPR1A bone morphogenetic protein receptor, type IA
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
EPCAM epithelial cell adhesion molecule
ERCC4 excision repair cross-complementation group 4
GATA6 GATA binding protein 6
JAG1 jagged 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NPHP3 nephronophthisis 3 (adolescent)
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
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)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
RFX6 regulatory factor X, 6
STK11 serine/threonine kinase 11
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)