enlarged heart 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:0000274
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Genes

298 gene mutations causing the enlarged heart 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
ACAN aggrecan
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACKR3 atypical chemokine receptor 3
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
AGO2 argonaute RISC catalytic component 2
AGTR1 angiotensin II receptor, type 1
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
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
BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1
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
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
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
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)
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
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
DOT1L DOT1-like histone H3K79 methyltransferase
DRD5 dopamine receptor D5
DUSP6 dual specificity phosphatase 6
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
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
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
FES FES proto-oncogene, tyrosine kinase
FGFR1 fibroblast growth factor receptor 1
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
FOXP3 forkhead box P3
FSTL3 follistatin-like 3 (secreted glycoprotein)
FXYD1 FXYD domain containing ion transport regulator 1
GAA glucosidase, alpha; acid
GATA5 GATA binding protein 5
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
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
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSPB8 heat shock 22kDa protein 8
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
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)
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
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
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
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
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
MED1 mediator complex subunit 1
MKS1 Meckel syndrome, type 1
MORF4L1 mortality factor 4 like 1
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
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
NCF1 neutrophil cytosolic factor 1
NCOR1 nuclear receptor corepressor 1
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)
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
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form)
PAPPA2 pappalysin 2
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)
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLCE1 phospholipase C, epsilon 1
PLN phospholamban
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R3C protein phosphatase 1, regulatory subunit 3C
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
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
RYR2 ryanodine receptor 2 (cardiac)
SCG5 secretogranin V
SCNN1B sodium channel, non voltage gated 1 beta subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SFRP1 secreted frizzled-related protein 1
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
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), 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
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPEG SPEG complex locus
SPNS1 spinster homolog 1 (Drosophila)
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
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D2B TBC1 domain family, member 2B
TBC1D4 TBC1 domain family, member 4
TBX5 T-box 5
TCAP titin-cap
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TERC telomerase RNA component
THBS4 thrombospondin 4
TIMP3 TIMP metallopeptidase inhibitor 3
TIMP4 TIMP metallopeptidase inhibitor 4
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
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
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
VIP vasoactive intestinal peptide
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