abnormal liver size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the average size of the liver (Mammalian Phenotype Ontology, MP_0004848)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004848
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Genes

307 gene mutations causing the abnormal liver size 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
ADA adenosine deaminase
ADAR adenosine deaminase, RNA-specific
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHR aryl hydrocarbon receptor
AIP aryl hydrocarbon receptor interacting protein
ALMS1 Alstrom syndrome protein 1
AMACR alpha-methylacyl-CoA racemase
ANGPTL3 angiopoietin-like 3
ANK1 ankyrin 1, erythrocytic
APC adenomatous polyposis coli
ARF6 ADP-ribosylation factor 6
ARG1 arginase 1
ARHGAP1 Rho GTPase activating protein 1
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ARID4A AT rich interactive domain 4A (RBP1-like)
ARIH2 ariadne RBR E3 ubiquitin protein ligase 2
ASIP agouti signaling protein
ASXL1 additional sex combs like transcriptional regulator 1
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATR ATR serine/threonine kinase
BAG1 BCL2-associated athanogene
BAG3 BCL2-associated athanogene 3
BBS4 Bardet-Biedl syndrome 4
BCAR1 breast cancer anti-estrogen resistance 1
BCKDK branched chain ketoacid dehydrogenase kinase
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BHLHA15 basic helix-loop-helix family, member a15
BHMT betaine--homocysteine S-methyltransferase
BMP5 bone morphogenetic protein 5
BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1
BRD1 bromodomain containing 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSG basigin (Ok blood group)
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CBFB core-binding factor, beta subunit
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCNG1 cyclin G1
CCR2 chemokine (C-C motif) receptor 2
CES1 carboxylesterase 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIAPIN1 cytokine induced apoptosis inhibitor 1
CLCA2 chloride channel accessory 2
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
CRBN cereblon
CSHL1 chorionic somatomammotropin hormone-like 1
CTHRC1 collagen triple helix repeat containing 1
CTSA cathepsin A
CTSG cathepsin G
CUL3 cullin 3
CXCL14 chemokine (C-X-C motif) ligand 14
CXCR2 chemokine (C-X-C motif) receptor 2
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
DEDD death effector domain containing
DFNB31 deafness, autosomal recessive 31
DICER1 dicer 1, ribonuclease type III
DLK1 delta-like 1 homolog (Drosophila)
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DRD2 dopamine receptor D2
DUSP1 dual specificity phosphatase 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGR1 early growth response 1
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
EIF3M eukaryotic translation initiation factor 3, subunit M
EIF6 eukaryotic translation initiation factor 6
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
EPO erythropoietin
EPOR erythropoietin receptor
ERCC5 excision repair cross-complementation group 5
ERN1 endoplasmic reticulum to nucleus signaling 1
ESR2 estrogen receptor 2 (ER beta)
FABP2 fatty acid binding protein 2, intestinal
FABP5 fatty acid binding protein 5 (psoriasis-associated)
FABP6 fatty acid binding protein 6, ileal
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
FGL1 fibrinogen-like 1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FOXP3 forkhead box P3
G0S2 G0/G1 switch 2
G6PC glucose-6-phosphatase, catalytic subunit
GAB1 GRB2-associated binding protein 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GHR growth hormone receptor
GLB1 galactosidase, beta 1
GNMT glycine N-methyltransferase
GPER1 G protein-coupled estrogen receptor 1
GPI glucose-6-phosphate isomerase
GPR12 G protein-coupled receptor 12
GRB10 growth factor receptor-bound protein 10
GRB14 growth factor receptor-bound protein 14
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
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HLX H2.0-like homeobox
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
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL1R1 interleukin 1 receptor, type I
INSR insulin receptor
IRF8 interferon regulatory factor 8
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JUND jun D proto-oncogene
JUP junction plakoglobin
KAT6A K(lysine) acetyltransferase 6A
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIFAP3 kinesin-associated protein 3
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KITLG KIT ligand
KL klotho
KLF1 Kruppel-like factor 1 (erythroid)
KLF3 Kruppel-like factor 3 (basic)
KLF6 Kruppel-like factor 6
KMT2A lysine (K)-specific methyltransferase 2A
KMT2B lysine (K)-specific methyltransferase 2B
KRAS Kirsten rat sarcoma viral oncogene homolog
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
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHX2 LIM homeobox 2
LIG1 ligase I, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LPIN1 lipin 1
LSR lipolysis stimulated lipoprotein receptor
LTA lymphotoxin alpha
MAPK14 mitogen-activated protein kinase 14
MAPK6 mitogen-activated protein kinase 6
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1
MARVELD2 MARVEL domain containing 2
MAT1A methionine adenosyltransferase I, alpha
MBD5 methyl-CpG binding domain protein 5
MBTD1 mbt domain containing 1
MC4R melanocortin 4 receptor
MDK midkine (neurite growth-promoting factor 2)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEIS1 Meis homeobox 1
MET MET proto-oncogene, receptor tyrosine kinase
MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase
MLXIPL MLX interacting protein-like
MSTN myostatin
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
MTSS1 metastasis suppressor 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NCOA3 nuclear receptor coactivator 3
NCOA6 nuclear receptor coactivator 6
NCOR1 nuclear receptor corepressor 1
NDFIP1 Nedd4 family interacting protein 1
NEGR1 neuronal growth regulator 1
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFE2L1 nuclear factor, erythroid 2-like 1
NFE2L2 nuclear factor, erythroid 2-like 2
NLRP3 NLR family, pyrin domain containing 3
NODAL nodal growth differentiation factor
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
PBRM1 polybromo 1
PBX1 pre-B-cell leukemia homeobox 1
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDCD1 programmed cell death 1
PDGFB platelet-derived growth factor beta polypeptide
PEX7 peroxisomal biogenesis factor 7
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLA2G1B phospholipase A2, group IB (pancreas)
PNLIP pancreatic lipase
POMC proopiomelanocortin
POU2F1 POU class 2 homeobox 1
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
PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
PRL prolactin
PROX1 prospero homeobox 1
PSAP prosaposin
PTN pleiotrophin
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RB1 retinoblastoma 1
RCAN2 regulator of calcineurin 2
RDH10 retinol dehydrogenase 10 (all-trans)
RDH16 retinol dehydrogenase 16 (all-trans)
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RUNX2 runt-related transcription factor 2
RXRA retinoid X receptor, alpha
SC5D sterol-C5-desaturase
SCG5 secretogranin V
SCP2 sterol carrier protein 2
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SELENBP1 selenium binding protein 1
SENP1 SUMO1/sentrin specific peptidase 1
SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
SERTAD2 SERTA domain containing 2
SGSH N-sulfoglucosamine sulfohydrolase
SIAH1 siah E3 ubiquitin protein ligase 1
SIK3 SIK family kinase 3
SIRT7 sirtuin 7
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC20A1 solute carrier family 20 (phosphate transporter), 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
SNORD50A small nucleolar RNA, C/D box 50A
SNORD50B small nucleolar RNA, C/D box 50B
SNX27 sorting nexin family member 27
SOCS1 suppressor of cytokine signaling 1
SOCS3 suppressor of cytokine signaling 3
SOD2 superoxide dismutase 2, mitochondrial
SOX17 SRY (sex determining region Y)-box 17
SP3 Sp3 transcription factor
SPEN spen family transcriptional repressor
SPI1 Spi-1 proto-oncogene
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SPTBN1 spectrin, beta, non-erythrocytic 1
SRA1 steroid receptor RNA activator 1
STARD10 StAR-related lipid transfer (START) domain containing 10
STARD4 StAR-related lipid transfer (START) domain containing 4
STAT5B signal transducer and activator of transcription 5B
STEAP4 STEAP family member 4
STK11 serine/threonine kinase 11
STX2 syntaxin 2
TACC3 transforming, acidic coiled-coil containing protein 3
TBX3 T-box 3
TCEA1 transcription elongation factor A (SII), 1
TET2 tet methylcytosine dioxygenase 2
THRA thyroid hormone receptor, alpha
TKT transketolase
TMOD3 tropomodulin 3 (ubiquitous)
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNIP1 TNFAIP3 interacting protein 1
TP53 tumor protein p53
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
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
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
XBP1 X-box binding protein 1
XIRP2 xin actin binding repeat containing 2
XPA xeroderma pigmentosum, complementation group A
XYLT2 xylosyltransferase II
YBX1 Y box binding protein 1
ZDHHC13 zinc finger, DHHC-type containing 13
ZFPM1 zinc finger protein, FOG family member 1
ZFPM2 zinc finger protein, FOG family member 2