abnormal cardiac muscle tissue morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the involuntary muscle comprising the myocardium of the heart and the walls of the pulmonary veins and superior vena cava; cardiac muscle is striated and multinucleate, and the cardiomyocytes branch and are joined to one another via intercalated discs (Mammalian Phenotype Ontology, MP_0010630)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010630
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Genes

230 gene mutations causing the abnormal cardiac muscle tissue morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACKR3 atypical chemokine receptor 3
ACTC1 actin, alpha, cardiac muscle 1
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADGRG6 adhesion G protein-coupled receptor G6
ADM adrenomedullin
ADRBK1 adrenergic, beta, receptor kinase 1
AGTR2 angiotensin II receptor, type 2
AKAP12 A kinase (PRKA) anchor protein 12
AKAP13 A kinase (PRKA) anchor protein 13
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANGPT1 angiopoietin 1
ANKRD17 ankyrin repeat domain 17
ARID1A AT rich interactive domain 1A (SWI-like)
ASL argininosuccinate lyase
ATE1 arginyltransferase 1
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCAR1 breast cancer anti-estrogen resistance 1
BCL6 B-cell CLL/lymphoma 6
BIN1 bridging integrator 1
BMP10 bone morphogenetic protein 10
BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CALR calreticulin
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CENPJ centromere protein J
CFLAR CASP8 and FADD-like apoptosis regulator
CHD2 chromodomain helicase DNA binding protein 2
CLU clusterin
COX1
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSRP2 cysteine and glycine-rich protein 2
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
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DES desmin
DLL4 delta-like 4 (Drosophila)
DMD dystrophin
DNAH11 dynein, axonemal, heavy chain 11
DNM1L dynamin 1-like
DTNA dystrobrevin, alpha
EFNB2 ephrin-B2
EGLN1 egl-9 family hypoxia-inducible factor 1
EMD emerin
EP300 E1A binding protein p300
EPHB4 EPH receptor B4
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR2 estrogen receptor 2 (ER beta)
FADD Fas (TNFRSF6)-associated via death domain
FES FES proto-oncogene, tyrosine kinase
FGF16 fibroblast growth factor 16
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FHOD3 formin homology 2 domain containing 3
FKBP1A FK506 binding protein 1A, 12kDa
FOXH1 forkhead box H1
FOXM1 forkhead box M1
FOXO1 forkhead box O1
FXR1 fragile X mental retardation, autosomal homolog 1
GAA glucosidase, alpha; acid
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
GJC1 gap junction protein, gamma 1, 45kDa
GYS1 glycogen synthase 1 (muscle)
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HBEGF heparin-binding EGF-like growth factor
HDAC2 histone deacetylase 2
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF3A hypoxia inducible factor 3, alpha subunit
HOPX HOP homeobox
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IGHMBP2 immunoglobulin mu binding protein 2
ITGAV integrin, alpha V
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JPH2 junctophilin 2
JUP junction plakoglobin
KDM6A lysine (K)-specific demethylase 6A
KIFAP3 kinesin-associated protein 3
KLF15 Kruppel-like factor 15
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LARGE like-glycosyltransferase
LATS2 large tumor suppressor kinase 2
LEP leptin
LEPR leptin receptor
LMNA lamin A/C
LTBP4 latent transforming growth factor beta binding protein 4
MAP1S microtubule-associated protein 1S
MAP2K5 mitogen-activated protein kinase kinase 5
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MARVELD2 MARVEL domain containing 2
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MED24 mediator complex subunit 24
MED30 mediator complex subunit 30
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEN1 multiple endocrine neoplasia I
MEST mesoderm specific transcript
MFSD8 major facilitator superfamily domain containing 8
MKL1 megakaryoblastic leukemia (translocation) 1
MOSPD3 motile sperm domain containing 3
MPZL3 myelin protein zero-like 3
MYBPC3 myosin binding protein C, cardiac
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
MYL7 myosin, light chain 7, regulatory
MYLK3 myosin light chain kinase 3
MYO18B myosin XVIIIB
MYOZ2 myozenin 2
NACA nascent polypeptide-associated complex alpha subunit
NCOA6 nuclear receptor coactivator 6
NEK6 NIMA-related kinase 6
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NGF nerve growth factor (beta polypeptide)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NOTCH2 notch 2
NPPB natriuretic peptide B
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRG1 neuregulin 1
NTF3 neurotrophin 3
OVOL2 ovo-like zinc finger 2
PDCD10 programmed cell death 10
PDLIM3 PDZ and LIM domain 3
PDPN podoplanin
PEPD peptidase D
PHIP pleckstrin homology domain interacting protein
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKP2 plakophilin 2
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLEC plectin
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POR P450 (cytochrome) oxidoreductase
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PTCD2 pentatricopeptide repeat domain 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1CC1 RB1-inducible coiled-coil 1
RBM20 RNA binding motif protein 20
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGPL1 sphingosine-1-phosphate lyase 1
SH3PXD2B SH3 and PX domains 2B
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIRT7 sirtuin 7
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD7 SMAD family member 7
SMYD1 SET and MYND domain containing 1
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPTBN1 spectrin, beta, non-erythrocytic 1
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TEK TEK tyrosine kinase, endothelial
TERC telomerase RNA component
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TK2 thymidine kinase 2, mitochondrial
TMEM100 transmembrane protein 100
TMOD1 tropomodulin 1
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TREX1 three prime repair exonuclease 1
TRIM54 tripartite motif containing 54
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TTN titin
TXNRD2 thioredoxin reductase 2
UBE4B ubiquitination factor E4B
UBP1 upstream binding protein 1 (LBP-1a)
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VCL vinculin
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
XBP1 X-box binding protein 1
XIRP1 xin actin binding repeat containing 1
XIRP2 xin actin binding repeat containing 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZFP36L1 ZFP36 ring finger protein-like 1