biliary tract abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001080
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Genes

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

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACVRL1 activin A receptor type II-like 1
ALAS2 5'-aminolevulinate synthase 2
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
BMPR1A bone morphogenetic protein receptor, type IA
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CIITA class II, major histocompatibility complex, transactivator
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
CLIP2 CAP-GLY domain containing linker protein 2
COMT catechol-O-methyltransferase
ELN elastin
ENG endoglin
EPCAM epithelial cell adhesion molecule
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
F5 coagulation factor V (proaccelerin, labile factor)
FECH ferrochelatase
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GDF2 growth differentiation factor 2
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBB hemoglobin, beta
HIRA histone cell cycle regulator
HNF1B HNF1 homeobox B
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IFT27 intraflagellar transport 27
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JAG1 jagged 1
JAK2 Janus kinase 2
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LIMK1 LIM domain kinase 1
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LZTFL1 leucine zipper transcription factor-like 1
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
NPHP3 nephronophthisis 3 (adolescent)
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
PTPN3 protein tyrosine phosphatase, non-receptor type 3
RFC2 replication factor C (activator 1) 2, 40kDa
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFX6 regulatory factor X, 6
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RPGRIP1L RPGRIP1-like
SCARB2 scavenger receptor class B, member 2
SMAD4 SMAD family member 4
STK11 serine/threonine kinase 11
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67
TRIM32 tripartite motif containing 32
TTC8 tetratricopeptide repeat domain 8
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDPCP WD repeat containing planar cell polarity effector