decreased liver function Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced ability of the liver to perform its functions. (Human Phenotype Ontology, HP_0001410)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001410
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Genes

150 genes associated with the decreased liver function phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAD9 acyl-CoA dehydrogenase family, member 9
ACVRL1 activin A receptor type II-like 1
ADK adenosine kinase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKR1D1 aldo-keto reductase family 1, member D1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
AMACR alpha-methylacyl-CoA racemase
ARL6 ADP-ribosylation factor-like 6
ATP7B ATPase, Cu++ transporting, beta polypeptide
BBIP1 BBSome interacting protein 1
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
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
COA5 cytochrome c oxidase assembly factor 5
COG4 component of oligomeric golgi complex 4
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CTC1 CTS telomere maintenance complex component 1
CYC1 cytochrome c-1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DGUOK deoxyguanosine kinase
DKC1 dyskeratosis congenita 1, dyskerin
DLD dihydrolipoamide dehydrogenase
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENG endoglin
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
F5 coagulation factor V (proaccelerin, labile factor)
FADD Fas (TNFRSF6)-associated via death domain
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FASTKD2 FAST kinase domains 2
FECH ferrochelatase
FH fumarate hydratase
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GALT galactose-1-phosphate uridylyltransferase
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF2 growth differentiation factor 2
GFM1 G elongation factor, mitochondrial 1
HADH hydroxyacyl-CoA dehydrogenase
HLA-B major histocompatibility complex, class I, B
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IL21R interleukin 21 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JAK2 Janus kinase 2
LIPA lipase A, lysosomal acid, cholesterol esterase
LZTFL1 leucine zipper transcription factor-like 1
MEFV Mediterranean fever
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MOGS mannosyl-oligosaccharide glucosidase
MPI mannose phosphate isomerase
MPV17 MpV17 mitochondrial inner membrane protein
MTM1 myotubularin 1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NPC1 Niemann-Pick disease, type C1
NPHP1 nephronophthisis 1 (juvenile)
NUBPL nucleotide binding protein-like
OCLN occludin
OTC ornithine carbamoyltransferase
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial)
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
POLG polymerase (DNA directed), gamma
PORCN porcupine homolog (Drosophila)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RPGRIP1L RPGRIP1-like
RTEL1 regulator of telomere elongation helicase 1
SC5D sterol-C5-desaturase
SDCCAG8 serologically defined colon cancer antigen 8
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SH2D1A SH2 domain containing 1A
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC30A10 solute carrier family 30, member 10
SMAD4 SMAD family member 4
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TMEM67 transmembrane protein 67
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
USB1 U6 snRNA biogenesis 1
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WDPCP WD repeat containing planar cell polarity effector
WRAP53 WD repeat containing, antisense to TP53