abnormal heart size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description change from normal in the physical magnitude of the cardiac muscle or any of its component structures (Mammalian Phenotype Ontology, MP_0005406)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005406
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Genes

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

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACACB acetyl-CoA carboxylase beta
ACAN aggrecan
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACKR3 atypical chemokine receptor 3
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTC1 actin, alpha, cardiac muscle 1
ACTN4 actinin, alpha 4
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADGRF5 adhesion G protein-coupled receptor F5
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
ADORA2A adenosine A2a receptor
ADRBK1 adrenergic, beta, receptor kinase 1
AGO2 argonaute RISC catalytic component 2
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
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKAP12 A kinase (PRKA) anchor protein 12
AKAP13 A kinase (PRKA) anchor protein 13
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKRD26 ankyrin repeat domain 26
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APOE apolipoprotein E
ARL4D ADP-ribosylation factor-like 4D
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASXL2 additional sex combs like transcriptional regulator 2
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
BMP10 bone morphogenetic protein 10
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRE brain and reproductive organ-expressed (TNFRSF1A modulator)
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CALCRL calcitonin receptor-like
CALR calreticulin
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CBX6 chromobox homolog 6
CD28 CD28 molecule
CD2AP CD2-associated protein
CD36 CD36 molecule (thrombospondin receptor)
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CHD2 chromodomain helicase DNA binding protein 2
CHGA chromogranin A
CHRD chordin
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CKM creatine kinase, muscle
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric)
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
CORIN corin, serine peptidase
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CRTC1 CREB regulated transcription coactivator 1
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
CXADR coxsackie virus and adenovirus receptor
CYBB cytochrome b-245, beta polypeptide
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DEDD death effector domain containing
DES desmin
DFNB31 deafness, autosomal recessive 31
DLC1 DLC1 Rho GTPase activating protein
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNASE1L2 deoxyribonuclease I-like 2
DOT1L DOT1-like histone H3K79 methyltransferase
DRD5 dopamine receptor D5
DUSP6 dual specificity phosphatase 6
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
DYX1C1 dyslexia susceptibility 1 candidate 1
EAF2 ELL associated factor 2
ECE1 endothelin converting enzyme 1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1
ELN elastin
ENG endoglin
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPHB4 EPH receptor B4
EPO erythropoietin
EPOR erythropoietin receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
F3 coagulation factor III (thromboplastin, tissue factor)
FABP3 fatty acid binding protein 3, muscle and heart
FBN1 fibrillin 1
FBXO11 F-box protein 11
FES FES proto-oncogene, tyrosine kinase
FGF16 fibroblast growth factor 16
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FHL2 four and a half LIM domains 2
FKBP1A FK506 binding protein 1A, 12kDa
FKBP1B FK506 binding protein 1B, 12.6 kDa
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXJ1 forkhead box J1
FOXM1 forkhead box M1
FOXP3 forkhead box P3
FSTL3 follistatin-like 3 (secreted glycoprotein)
FUS FUS RNA binding protein
FXR1 fragile X mental retardation, autosomal homolog 1
FXYD1 FXYD domain containing ion transport regulator 1
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 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
GJA1 gap junction protein, alpha 1, 43kDa
GJC1 gap junction protein, gamma 1, 45kDa
GLA galactosidase, alpha
GLTSCR1L GLTSCR1-like
GNAS GNAS complex locus
GPI glucose-6-phosphate isomerase
GPX7 glutathione peroxidase 7
GRB14 growth factor receptor-bound protein 14
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GRK5 G protein-coupled receptor kinase 5
GSTO2 glutathione S-transferase omega 2
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2C guanylate cyclase 2C
GYS1 glycogen synthase 1 (muscle)
HAND1 heart and neural crest derivatives expressed 1
HBEGF heparin-binding EGF-like growth factor
HDAC2 histone deacetylase 2
HDAC5 histone deacetylase 5
HDAC9 histone deacetylase 9
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HMGA1 high mobility group AT-hook 1
HMOX1 heme oxygenase 1
HOPX HOP homeobox
HOXA1 homeobox A1
HOXA3 homeobox A3
HP1BP3 heterochromatin protein 1, binding protein 3
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSPB11 heat shock protein family B (small), member 11
HSPB8 heat shock 22kDa protein 8
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
HTRA2 HtrA serine peptidase 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IFT122 intraflagellar transport 122
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
INPP5F inositol polyphosphate-5-phosphatase F
INS insulin
IRX4 iroquois homeobox 4
ITGAV integrin, alpha V
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JUP junction plakoglobin
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
KDM6A lysine (K)-specific demethylase 6A
KIFAP3 kinesin-associated protein 3
KLF15 Kruppel-like factor 15
KLF3 Kruppel-like factor 3 (basic)
KLF5 Kruppel-like factor 5 (intestinal)
KLK3 kallikrein-related peptidase 3
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LAMP2 lysosomal-associated membrane protein 2
LASP1 LIM and SH3 protein 1
LATS2 large tumor suppressor kinase 2
LDB3 LIM domain binding 3
LDHA lactate dehydrogenase A
LEP leptin
LEPR leptin receptor
LMNA lamin A/C
LNPEP leucyl/cystinyl aminopeptidase
LOX lysyl oxidase
LRP2 low density lipoprotein receptor-related protein 2
LTA lymphotoxin alpha
LTBP4 latent transforming growth factor beta binding protein 4
LY6E lymphocyte antigen 6 complex, locus E
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MAPK6 mitogen-activated protein kinase 6
MAPK7 mitogen-activated protein kinase 7
MARK2 MAP/microtubule affinity-regulating kinase 2
MARVELD2 MARVEL domain containing 2
MB myoglobin
MBD4 methyl-CpG binding domain protein 4
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MED24 mediator complex subunit 24
MEF2C myocyte enhancer factor 2C
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKS1 Meckel syndrome, type 1
MORF4L1 mortality factor 4 like 1
MOSPD3 motile sperm domain containing 3
MSTN myostatin
MTUS1 microtubule associated tumor suppressor 1
MUS81 MUS81 structure-specific endonuclease subunit
MYBPC3 myosin binding protein C, cardiac
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH10 myosin, heavy chain 10, non-muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYLK3 myosin light chain kinase 3
MYO6 myosin VI
MYOZ2 myozenin 2
NACA nascent polypeptide-associated complex alpha subunit
NCF1 neutrophil cytosolic factor 1
NCOA6 nuclear receptor coactivator 6
NCOR1 nuclear receptor corepressor 1
NCSTN nicastrin
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 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
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH2 notch 2
NOX4 NADPH oxidase 4
NPPA natriuretic peptide A
NPR1 natriuretic peptide receptor 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NRG1 neuregulin 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form)
PAPPA2 pappalysin 2
PARD3 par-3 family cell polarity regulator
PBRM1 polybromo 1
PDCD1 programmed cell death 1
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM5 PDZ and LIM domain 5
PFKM phosphofructokinase, muscle
PHC1 polyhomeotic homolog 1 (Drosophila)
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAGL1 pleiomorphic adenoma gene-like 1
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLCE1 phospholipase C, epsilon 1
PLN phospholamban
PNMT phenylethanolamine N-methyltransferase
PNPLA2 patatin-like phospholipase domain containing 2
POFUT1 protein O-fucosyltransferase 1
POLG polymerase (DNA directed), gamma
POR P450 (cytochrome) oxidoreductase
POSTN periostin, osteoblast specific factor
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R3C protein phosphatase 1, regulatory subunit 3C
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PRDM16 PR domain containing 16
PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRB protein tyrosine phosphatase, receptor type, B
QKI QKI, KH domain containing, RNA binding
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RBL2 retinoblastoma-like 2
RCAN1 regulator of calcineurin 1
RNLS renalase, FAD-dependent amine oxidase
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RRAD Ras-related associated with diabetes
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SCG5 secretogranin V
SCNN1B sodium channel, non voltage gated 1 beta subunit
SEC24B SEC24 family member B
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SFRP1 secreted frizzled-related protein 1
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIRT1 sirtuin 1
SIRT2 sirtuin 2
SIRT7 sirtuin 7
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
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
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SLIT3 slit homolog 3 (Drosophila)
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMTN smoothelin
SMYD1 SET and MYND domain containing 1
SNORD50A small nucleolar RNA, C/D box 50A
SNORD50B small nucleolar RNA, C/D box 50B
SNX27 sorting nexin family member 27
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPEG SPEG complex locus
SPNS1 spinster homolog 1 (Drosophila)
SPP1 secreted phosphoprotein 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SPTBN1 spectrin, beta, non-erythrocytic 1
SS18 synovial sarcoma translocation, chromosome 18
SSR1 signal sequence receptor, alpha
STEAP3 STEAP family member 3, metalloreductase
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D2B TBC1 domain family, member 2B
TBC1D4 TBC1 domain family, member 4
TBX20 T-box 20
TBX5 T-box 5
TCAP titin-cap
TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TERC telomerase RNA component
TH tyrosine hydroxylase
THBS4 thrombospondin 4
THRA thyroid hormone receptor, alpha
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIMP3 TIMP metallopeptidase inhibitor 3
TIMP4 TIMP metallopeptidase inhibitor 4
TKT transketolase
TLR2 toll-like receptor 2
TMEM100 transmembrane protein 100
TNF tumor necrosis factor
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TP53 tumor protein p53
TPH1 tryptophan hydroxylase 1
TPM1 tropomyosin 1 (alpha)
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIM54 tripartite motif containing 54
TRIM55 tripartite motif containing 55
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSC22D1 TSC22 domain family, member 1
TTC7A tetratricopeptide repeat domain 7A
TTN titin
UBE4B ubiquitination factor E4B
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VCL vinculin
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
VIP vasoactive intestinal peptide
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
XIRP1 xin actin binding repeat containing 1
XIRP2 xin actin binding repeat containing 2
XYLB xylulokinase homolog (H. influenzae)
ZFPM1 zinc finger protein, FOG family member 1
ZMPSTE24 zinc metallopeptidase STE24