abnormal heart weight Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the average weight of the heart compared to controls (Mammalian Phenotype Ontology, MP_0004857)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004857
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Genes

173 gene mutations causing the abnormal heart weight phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTN4 actinin, alpha 4
ADAM17 ADAM metallopeptidase domain 17
ADGRF5 adhesion G protein-coupled receptor F5
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AHR aryl hydrocarbon receptor
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKRD26 ankyrin repeat domain 26
APOE apolipoprotein E
ARL4D ADP-ribosylation factor-like 4D
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
BBX bobby sox homolog (Drosophila)
BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1
BRE brain and reproductive organ-expressed (TNFRSF1A modulator)
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CASQ2 calsequestrin 2 (cardiac muscle)
CBX6 chromobox homolog 6
CD28 CD28 molecule
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CKM creatine kinase, muscle
CNOT3 CCR4-NOT transcription complex, subunit 3
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CRTC1 CREB regulated transcription coactivator 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DEDD death effector domain containing
DFNB31 deafness, autosomal recessive 31
DNASE1L2 deoxyribonuclease I-like 2
DRD5 dopamine receptor D5
DUSP6 dual specificity phosphatase 6
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EPAS1 endothelial PAS domain protein 1
EPO erythropoietin
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FABP3 fatty acid binding protein 3, muscle and heart
FBXO11 F-box protein 11
FGF16 fibroblast growth factor 16
FKBP1A FK506 binding protein 1A, 12kDa
FKBP1B FK506 binding protein 1B, 12.6 kDa
FSTL3 follistatin-like 3 (secreted glycoprotein)
FUS FUS RNA binding protein
FXYD1 FXYD domain containing ion transport regulator 1
GALC galactosylceramidase
GATA5 GATA binding protein 5
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GIPC1 GIPC PDZ domain containing family, member 1
GLA galactosidase, alpha
GNAS GNAS complex locus
GPI glucose-6-phosphate isomerase
GRB14 growth factor receptor-bound protein 14
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GSTO2 glutathione S-transferase omega 2
GUCY2C guanylate cyclase 2C
GYS1 glycogen synthase 1 (muscle)
HBEGF heparin-binding EGF-like growth factor
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HMOX1 heme oxygenase 1
HOPX HOP homeobox
HP1BP3 heterochromatin protein 1, binding protein 3
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
IDUA iduronidase, alpha-L-
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IL6 interleukin 6
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCNMB1 potassium channel subfamily M regulatory beta subunit 1
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KLF3 Kruppel-like factor 3 (basic)
KLF5 Kruppel-like factor 5 (intestinal)
KLK3 kallikrein-related peptidase 3
LAMP2 lysosomal-associated membrane protein 2
LDB3 LIM domain binding 3
LDHA lactate dehydrogenase A
LEP leptin
LMNA lamin A/C
LTA lymphotoxin alpha
LTBP4 latent transforming growth factor beta binding protein 4
MAPK6 mitogen-activated protein kinase 6
MARVELD2 MARVEL domain containing 2
MECOM MDS1 and EVI1 complex locus
MSTN myostatin
MTUS1 microtubule associated tumor suppressor 1
MYBPC3 myosin binding protein C, cardiac
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYLK3 myosin light chain kinase 3
MYO6 myosin VI
NCOR1 nuclear receptor corepressor 1
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEK6 NIMA-related kinase 6
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
NPR1 natriuretic peptide receptor 1
NRG1 neuregulin 1
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form)
PAPPA2 pappalysin 2
PDLIM5 PDZ and LIM domain 5
PFKM phosphofructokinase, muscle
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAGL1 pleiomorphic adenoma gene-like 1
PLN phospholamban
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POR P450 (cytochrome) oxidoreductase
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R3C protein phosphatase 1, regulatory subunit 3C
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RCAN1 regulator of calcineurin 1
RRAD Ras-related associated with diabetes
RYR2 ryanodine receptor 2 (cardiac)
SFRP1 secreted frizzled-related protein 1
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIRT2 sirtuin 2
SIRT7 sirtuin 7
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC38A10 solute carrier family 38, member 10
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMTN smoothelin
SNORD50A small nucleolar RNA, C/D box 50A
SNORD50B small nucleolar RNA, C/D box 50B
SOD2 superoxide dismutase 2, mitochondrial
SPEG SPEG complex locus
SPNS1 spinster homolog 1 (Drosophila)
SPP1 secreted phosphoprotein 1
TBC1D2B TBC1 domain family, member 2B
TBC1D4 TBC1 domain family, member 4
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TERC telomerase RNA component
THBS4 thrombospondin 4
TIMP4 TIMP metallopeptidase inhibitor 4
TKT transketolase
TLR2 toll-like receptor 2
TNF tumor necrosis factor
TNNI3 troponin I type 3 (cardiac)
TP53 tumor protein p53
TPM1 tropomyosin 1 (alpha)
TRIM55 tripartite motif containing 55
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TSC22D1 TSC22 domain family, member 1
TTC7A tetratricopeptide repeat domain 7A
TTN titin
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFB vascular endothelial growth factor B
XIRP2 xin actin binding repeat containing 2
XYLB xylulokinase homolog (H. influenzae)
ZFPM1 zinc finger protein, FOG family member 1
ZMPSTE24 zinc metallopeptidase STE24