abnormal liver physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000609
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Genes

265 gene mutations causing the abnormal liver physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
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
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADA adenosine deaminase
ADAR adenosine deaminase, RNA-specific
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRP agouti related neuropeptide
AHR aryl hydrocarbon receptor
AIRE autoimmune regulator
AKAP12 A kinase (PRKA) anchor protein 12
ANGPTL3 angiopoietin-like 3
ANK1 ankyrin 1, erythrocytic
APOA1 apolipoprotein A-I
APOE apolipoprotein E
ARIH2 ariadne RBR E3 ubiquitin protein ligase 2
AS3MT arsenite methyltransferase
ASGR1 asialoglycoprotein receptor 1
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATXN2 ataxin 2
BBS4 Bardet-Biedl syndrome 4
BCL6 B-cell CLL/lymphoma 6
BCO2 beta-carotene oxygenase 2
BIN3 bridging integrator 3
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
C3 complement component 3
C3AR1 complement component 3a receptor 1
C4A complement component 4A (Rodgers blood group)
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCAR2 cell cycle and apoptosis regulator 2
CCNDBP1 cyclin D-type binding-protein 1
CCNG1 cyclin G1
CCR2 chemokine (C-C motif) receptor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD36 CD36 molecule (thrombospondin receptor)
CD44 CD44 molecule (Indian blood group)
CDK2 cyclin-dependent kinase 2
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CENPE centromere protein E, 312kDa
CES1 carboxylesterase 1
CHD2 chromodomain helicase DNA binding protein 2
CLCN3 chloride channel, voltage-sensitive 3
CLEC4G C-type lectin domain family 4, member G
CLOCK clock circadian regulator
COL1A1 collagen, type I, alpha 1
CREM cAMP responsive element modulator
CRTC2 CREB regulated transcription coactivator 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSV cathepsin V
CYGB cytoglobin
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1
CYS1 cystin 1
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DEGS1 delta(4)-desaturase, sphingolipid 1
DTX1 deltex 1, E3 ubiquitin ligase
E2F2 E2F transcription factor 2
EFS embryonal Fyn-associated substrate
EGR1 early growth response 1
EIF6 eukaryotic translation initiation factor 6
ELOVL5 ELOVL fatty acid elongase 5
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
EPO erythropoietin
EPOR erythropoietin receptor
ERCC1 excision repair cross-complementation group 1
F2RL1 coagulation factor II (thrombin) receptor-like 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAIM Fas apoptotic inhibitory molecule
FAM132B family with sequence similarity 132, member B
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FECH ferrochelatase
FGF21 fibroblast growth factor 21
FOXP3 forkhead box P3
GBA glucosidase, beta, acid
GCLC glutamate-cysteine ligase, catalytic subunit
GHRH growth hormone releasing hormone
GJB1 gap junction protein, beta 1, 32kDa
GLMP glycosylated lysosomal membrane protein
GOLM1 golgi membrane protein 1
GPAM glycerol-3-phosphate acyltransferase, mitochondrial
GPR132 G protein-coupled receptor 132
GRN granulin
GSTZ1 glutathione S-transferase zeta 1
GYS2 glycogen synthase 2 (liver)
HABP2 hyaluronan binding protein 2
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMOX1 heme oxygenase 1
HNF1A HNF1 homeobox A
IFNGR1 interferon gamma receptor 1
IFT88 intraflagellar transport 88
IGF2 insulin-like growth factor 2
IGFBP1 insulin-like growth factor binding protein 1
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL2 interleukin 2
IL22 interleukin 22
IL2RB interleukin 2 receptor, beta
IL4R interleukin 4 receptor
IL6 interleukin 6
IL6R interleukin 6 receptor
INHA inhibin, alpha
INSR insulin receptor
INVS inversin
IQGAP2 IQ motif containing GTPase activating protein 2
JAK1 Janus kinase 1
JARID2 jumonji, AT rich interactive domain 2
JUN jun proto-oncogene
JUND jun D proto-oncogene
KL klotho
KLB klotho beta
KLF15 Kruppel-like factor 15
LAMA4 laminin, alpha 4
LAT linker for activation of T cells
LBP lipopolysaccharide binding protein
LDLR low density lipoprotein receptor
LECT2 leukocyte cell-derived chemotaxin 2
LEP leptin
LEPR leptin receptor
LIG4 ligase IV, DNA, ATP-dependent
LRP1 low density lipoprotein receptor-related protein 1
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LTA lymphotoxin alpha
LYN LYN proto-oncogene, Src family tyrosine kinase
MAN2A1 mannosidase, alpha, class 2A, member 1
MAP2K4 mitogen-activated protein kinase kinase 4
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAPK9 mitogen-activated protein kinase 9
MARK3 MAP/microtubule affinity-regulating kinase 3
MAT1A methionine adenosyltransferase I, alpha
MC4R melanocortin 4 receptor
MEFV Mediterranean fever
MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase
MIR122 microRNA 122
MLXIPL MLX interacting protein-like
MPZL3 myelin protein zero-like 3
MTA2 metastasis associated 1 family, member 2
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NCKAP1L NCK-associated protein 1-like
NCOA5 nuclear receptor coactivator 5
NCOA6 nuclear receptor coactivator 6
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
ONECUT1 one cut homeobox 1
P2RY13 purinergic receptor P2Y, G-protein coupled, 13
PANK1 pantothenate kinase 1
PCSK9 proprotein convertase subtilisin/kexin type 9
PECAM1 platelet/endothelial cell adhesion molecule 1
PEMT phosphatidylethanolamine N-methyltransferase
PEX2 peroxisomal biogenesis factor 2
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PICALM phosphatidylinositol binding clathrin assembly protein
PILRA paired immunoglobin-like type 2 receptor alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLAU plasminogen activator, urokinase
PLAUR plasminogen activator, urokinase receptor
PLG plasminogen
POLB polymerase (DNA directed), beta
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPIA peptidylprolyl isomerase A (cyclophilin A)
PRF1 perforin 1 (pore forming protein)
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROX1 prospero homeobox 1
PTPRC protein tyrosine phosphatase, receptor type, C
PXMP2 peroxisomal membrane protein 2, 22kDa
RB1CC1 RB1-inducible coiled-coil 1
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBP1 retinol binding protein 1, cellular
RC3H1 ring finger and CCCH-type domains 1
REG1B regenerating islet-derived 1 beta
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RGN regucalcin
RHBDD3 rhomboid domain containing 3
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RXRA retinoid X receptor, alpha
SAT1 spermidine/spermine N1-acetyltransferase 1
SCARA5 scavenger receptor class A, member 5
SCARB1 scavenger receptor class B, member 1
SCP2 sterol carrier protein 2
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SEL1L sel-1 suppressor of lin-12-like (C. elegans)
SENP1 SUMO1/sentrin specific peptidase 1
SEP15 15 kDa selenoprotein
SEPP1 selenoprotein P, plasma, 1
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SGMS2 sphingomyelin synthase 2
SH3BP2 SH3-domain binding protein 2
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SIK3 SIK family kinase 3
SIRT3 sirtuin 3
SIRT7 sirtuin 7
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SOCS1 suppressor of cytokine signaling 1
SOCS2 suppressor of cytokine signaling 2
SOD2 superoxide dismutase 2, mitochondrial
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SPTBN1 spectrin, beta, non-erythrocytic 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
STAB2 stabilin 2
STAT5B signal transducer and activator of transcription 5B
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
SUMF1 sulfatase modifying factor 1
TANK TRAF family member-associated NFKB activator
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TET2 tet methylcytosine dioxygenase 2
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP3 TIMP metallopeptidase inhibitor 3
TK1 thymidine kinase 1, soluble
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNIP1 TNFAIP3 interacting protein 1
TOP1MT topoisomerase (DNA) I, mitochondrial
TP53 tumor protein p53
TRIM24 tripartite motif containing 24
TRIM27 tripartite motif containing 27
TSC1 tuberous sclerosis 1
TTC7A tetratricopeptide repeat domain 7A
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UNC93B1 unc-93 homolog B1 (C. elegans)
VASN vasorin
XBP1 X-box binding protein 1
XCL1 chemokine (C motif) ligand 1
XYLT2 xylosyltransferase II
ZFP36 ZFP36 ring finger protein