abnormal biliary tract morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A structural abnormality of the biliary tree. (Human Phenotype Ontology, HP_0012440)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005083
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49 gene mutations causing the abnormal biliary tract morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ANK1 ankyrin 1, erythrocytic
ARL3 ADP-ribosylation factor-like 3
B9D1 B9 protein domain 1
BICC1 BicC family RNA binding protein 1
CCKAR cholecystokinin A receptor
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD2 chromodomain helicase DNA binding protein 2
CHUK conserved helix-loop-helix ubiquitous kinase
CYS1 cystin 1
DNAH11 dynein, axonemal, heavy chain 11
FOXM1 forkhead box M1
FREM1 FRAS1 related extracellular matrix 1
GPBAR1 G protein-coupled bile acid receptor 1
GUCY1B3 guanylate cyclase 1, soluble, beta 3
HES1 hes family bHLH transcription factor 1
HLX H2.0-like homeobox
IFT88 intraflagellar transport 88
INVS inversin
JUN jun proto-oncogene
KLB klotho beta
LDLR low density lipoprotein receptor
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MKS1 Meckel syndrome, type 1
MUC1 mucin 1, cell surface associated
NCF1 neutrophil cytosolic factor 1
NDFIP1 Nedd4 family interacting protein 1
NOTCH2 notch 2
NPC1L1 NPC1-like 1
NR1H4 nuclear receptor subfamily 1, group H, member 4
ONECUT1 one cut homeobox 1
ONECUT2 one cut homeobox 2
PCTP phosphatidylcholine transfer protein
PDX1 pancreatic and duodenal homeobox 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RTN4RL1 reticulon 4 receptor-like 1
SIK3 SIK family kinase 3
SOX17 SRY (sex determining region Y)-box 17
SOX7 SRY (sex determining region Y)-box 7
SPTA1 spectrin, alpha, erythrocytic 1
THBS1 thrombospondin 1
TNIP1 TNFAIP3 interacting protein 1
VTI1B vesicle transport through interaction with t-SNAREs 1B
XYLT2 xylosyltransferase II