abnormality of the biliary system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the biliary system. (Human Phenotype Ontology, HP_0004297)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004297
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Genes

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

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
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
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACVRL1 activin A receptor type II-like 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADK adenosine kinase
AIRE autoimmune regulator
AKR1D1 aldo-keto reductase family 1, member D1
ALAS2 5'-aminolevulinate synthase 2
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
AMACR alpha-methylacyl-CoA racemase
ANK1 ankyrin 1, erythrocytic
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
APOA1 apolipoprotein A-I
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
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
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BLVRA biliverdin reductase A
BMPR1A bone morphogenetic protein receptor, type IA
BPGM 2,3-bisphosphoglycerate mutase
BRAF B-Raf proto-oncogene, serine/threonine kinase
C15ORF41 chromosome 15 open reading frame 41
CC2D2A coiled-coil and C2 domain containing 2A
CDAN1 codanin 1
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
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)
CLDN1 claudin 1
CLIP2 CAP-GLY domain containing linker protein 2
COMT catechol-O-methyltransferase
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CPOX coproporphyrinogen oxidase
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DGUOK deoxyguanosine kinase
DHCR7 7-dehydrocholesterol reductase
DMPK dystrophia myotonica-protein kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
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
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
F5 coagulation factor V (proaccelerin, labile factor)
FECH ferrochelatase
FGA fibrinogen alpha chain
FH fumarate hydratase
FOXF1 forkhead box F1
FUCA1 fucosidase, alpha-L- 1, tissue
G6PD glucose-6-phosphate dehydrogenase
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GDF2 growth differentiation factor 2
GFM1 G elongation factor, mitochondrial 1
GLIS3 GLIS family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPI glucose-6-phosphate isomerase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBA1 hemoglobin, alpha 1
HBB hemoglobin, beta
HBG2 hemoglobin, gamma G
HIRA histone cell cycle regulator
HK1 hexokinase 1
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INSR insulin receptor
JAG1 jagged 1
JAK2 Janus kinase 2
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT18 keratin 18, type I
KRT8 keratin 8, type II
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LPL lipoprotein lipase
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYST lysosomal trafficking regulator
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MPV17 MpV17 mitochondrial inner membrane protein
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NELFA negative elongation factor complex member A
NOTCH2 notch 2
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP3 nephronophthisis 3 (adolescent)
OCLN occludin
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX19 peroxisomal biogenesis factor 19
PEX5 peroxisomal biogenesis factor 5
PFKM phosphofructokinase, muscle
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
POU1F1 POU class 1 homeobox 1
PRF1 perforin 1 (pore forming protein)
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
RHAG Rh-associated glycoprotein
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPGRIP1L RPGRIP1-like
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SEC23B Sec23 homolog B (S. cerevisiae)
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMAD4 SMAD family member 4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SPTB spectrin, beta, erythrocytic
STK11 serine/threonine kinase 11
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TJP2 tight junction protein 2
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67
TPI1 triosephosphate isomerase 1
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UROS uroporphyrinogen III synthase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WHSC1 Wolf-Hirschhorn syndrome candidate 1