enlarged liver Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormally increased size of the liver. (Human Phenotype Ontology, HP_0002240)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000599
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Genes

155 gene mutations causing the enlarged liver phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
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
ACAN aggrecan
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACVRL1 activin A receptor type II-like 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AHR aryl hydrocarbon receptor
ALMS1 Alstrom syndrome protein 1
AMACR alpha-methylacyl-CoA racemase
ANGPTL3 angiopoietin-like 3
ANK1 ankyrin 1, erythrocytic
APC adenomatous polyposis coli
ARG1 arginase 1
ARID4A AT rich interactive domain 4A (RBP1-like)
ASIP agouti signaling protein
ASXL1 additional sex combs like transcriptional regulator 1
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BBS4 Bardet-Biedl syndrome 4
BCKDK branched chain ketoacid dehydrogenase kinase
BHLHA15 basic helix-loop-helix family, member a15
BHMT betaine--homocysteine S-methyltransferase
BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCR2 chemokine (C-C motif) receptor 2
CLCA2 chloride channel accessory 2
COL1A1 collagen, type I, alpha 1
CTSA cathepsin A
CTSG cathepsin G
CUL3 cullin 3
CYBRD1 cytochrome b reductase 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DFNB31 deafness, autosomal recessive 31
DLK1 delta-like 1 homolog (Drosophila)
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
ESR2 estrogen receptor 2 (ER beta)
FABP2 fatty acid binding protein 2, intestinal
FADS2 fatty acid desaturase 2
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FECH ferrochelatase
FFAR4 free fatty acid receptor 4
FGF21 fibroblast growth factor 21
FOXP3 forkhead box P3
G6PC glucose-6-phosphatase, catalytic subunit
GBA glucosidase, beta, acid
GNMT glycine N-methyltransferase
GPI glucose-6-phosphate isomerase
GPR12 G protein-coupled receptor 12
GRB10 growth factor receptor-bound protein 10
GSTZ1 glutathione S-transferase zeta 1
GTF2IRD1 GTF2I repeat domain containing 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HNF1A HNF1 homeobox A
IFITM1 interferon induced transmembrane protein 1
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IL1R1 interleukin 1 receptor, type I
INSR insulin receptor
IRF8 interferon regulatory factor 8
JAK1 Janus kinase 1
KIFAP3 kinesin-associated protein 3
KLF3 Kruppel-like factor 3 (basic)
KLF6 Kruppel-like factor 6
KMT2A lysine (K)-specific methyltransferase 2A
KMT2B lysine (K)-specific methyltransferase 2B
KRT18 keratin 18, type I
LACTB2 lactamase, beta 2
LDHA lactate dehydrogenase A
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LGMN legumain
LIPA lipase A, lysosomal acid, cholesterol esterase
LPIN1 lipin 1
LTA lymphotoxin alpha
MARVELD2 MARVEL domain containing 2
MAT1A methionine adenosyltransferase I, alpha
MC4R melanocortin 4 receptor
MLXIPL MLX interacting protein-like
MTSS1 metastasis suppressor 1
NCOA6 nuclear receptor coactivator 6
NDFIP1 Nedd4 family interacting protein 1
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NF2 neurofibromin 2 (merlin)
NLRP3 NLR family, pyrin domain containing 3
NOS3 nitric oxide synthase 3 (endothelial cell)
NPBWR1 neuropeptides B/W receptor 1
NPC1 Niemann-Pick disease, type C1
NPY6R neuropeptide Y receptor Y6 (pseudogene)
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
OCA2 oculocutaneous albinism II
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSMR oncostatin M receptor
OTC ornithine carbamoyltransferase
PAPPA2 pappalysin 2
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDCD1 programmed cell death 1
PEX7 peroxisomal biogenesis factor 7
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
POMC proopiomelanocortin
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PPT2 palmitoyl-protein thioesterase 2
PREP prolyl endopeptidase
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RDH16 retinol dehydrogenase 16 (all-trans)
SC5D sterol-C5-desaturase
SCG5 secretogranin V
SCP2 sterol carrier protein 2
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
SGSH N-sulfoglucosamine sulfohydrolase
SIRT7 sirtuin 7
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10
SMAP1 small ArfGAP 1
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOCS1 suppressor of cytokine signaling 1
SOD2 superoxide dismutase 2, mitochondrial
SPI1 Spi-1 proto-oncogene
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STAT5B signal transducer and activator of transcription 5B
STEAP4 STEAP family member 4
STK11 serine/threonine kinase 11
STX2 syntaxin 2
TET2 tet methylcytosine dioxygenase 2
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TP53 tumor protein p53
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TSC1 tuberous sclerosis 1
TTC7A tetratricopeptide repeat domain 7A
TXNIP thioredoxin interacting protein
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UROS uroporphyrinogen III synthase
WNT5A wingless-type MMTV integration site family, member 5A
XYLT2 xylosyltransferase II
ZDHHC13 zinc finger, DHHC-type containing 13