cirrhosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001394
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Genes

92 genes associated with the cirrhosis 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
ACVRL1 activin A receptor type II-like 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKR1D1 aldo-keto reductase family 1, member D1
ALAS2 5'-aminolevulinate synthase 2
ALDOB aldolase B, fructose-bisphosphate
ALMS1 Alstrom syndrome protein 1
AMACR alpha-methylacyl-CoA racemase
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
APC adenomatous polyposis coli
APOE apolipoprotein E
ARHGAP31 Rho GTPase activating protein 31
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
AXIN1 axin 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
CTC1 CTS telomere maintenance complex component 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DGUOK deoxyguanosine kinase
DKC1 dyskeratosis congenita 1, dyskerin
DOCK6 dedicator of cytokinesis 6
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
F5 coagulation factor V (proaccelerin, labile factor)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FECH ferrochelatase
FOS FBJ murine osteosarcoma viral oncogene homolog
GALT galactose-1-phosphate uridylyltransferase
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF2 growth differentiation factor 2
HBB hemoglobin, beta
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IFT43 intraflagellar transport 43
IGF2R insulin-like growth factor 2 receptor
IL21R interleukin 21 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JAG1 jagged 1
JAK2 Janus kinase 2
KRT18 keratin 18, type I
KRT8 keratin 8, type II
LBR lamin B receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
MET MET proto-oncogene, receptor tyrosine kinase
MPI mannose phosphate isomerase
MPV17 MpV17 mitochondrial inner membrane protein
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NPHP3 nephronophthisis 3 (adolescent)
PDGFRL platelet-derived growth factor receptor-like
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POLG polymerase (DNA directed), gamma
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RPGRIP1L RPGRIP1-like
RTEL1 regulator of telomere elongation helicase 1
SCARB2 scavenger receptor class B, member 2
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SFTPA2 surfactant protein A2
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC30A10 solute carrier family 30, member 10
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SMAD4 SMAD family member 4
TALDO1 transaldolase 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFR2 transferrin receptor 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM67 transmembrane protein 67
TP53 tumor protein p53
TREX1 three prime repair exonuclease 1
TTC37 tetratricopeptide repeat domain 37
UROD uroporphyrinogen decarboxylase
USB1 U6 snRNA biogenesis 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WRAP53 WD repeat containing, antisense to TP53