abnormal myocardium layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the middle layer of the heart, comprised mainly of striated cardiac muscle fibers (Mammalian Phenotype Ontology, MP_0005329)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005329
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Genes

312 gene mutations causing the abnormal myocardium layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABI1 abl-interactor 1
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)
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ASL argininosuccinate lyase
ATE1 arginyltransferase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
B9D1 B9 protein domain 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
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
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
CALCRL calcitonin receptor-like
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
CHD7 chromodomain helicase DNA binding protein 7
CISD2 CDGSH iron sulfur domain 2
CLU clusterin
COL1A1 collagen, type I, alpha 1
COX1
CREBBP CREB binding protein
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
ENG endoglin
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
FAS Fas cell surface death receptor
FBLN1 fibulin 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FES FES proto-oncogene, tyrosine kinase
FGF16 fibroblast growth factor 16
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FHOD3 formin homology 2 domain containing 3
FKBP1A FK506 binding protein 1A, 12kDa
FLRT2 fibronectin leucine rich transmembrane protein 2
FN1 fibronectin 1
FOXC2 forkhead box C2
FOXH1 forkhead box H1
FOXM1 forkhead box M1
FOXO1 forkhead box O1
FOXP1 forkhead box P1
FXR1 fragile X mental retardation, autosomal homolog 1
GAA glucosidase, alpha; acid
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJA1 gap junction protein, alpha 1, 43kDa
GJC1 gap junction protein, gamma 1, 45kDa
GYS1 glycogen synthase 1 (muscle)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
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
HMGA1 high mobility group AT-hook 1
HMOX1 heme oxygenase 1
HOPX HOP homeobox
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IGF2R insulin-like growth factor 2 receptor
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
KIF3A kinesin family member 3A
KIFAP3 kinesin-associated protein 3
KLF15 Kruppel-like factor 15
KLF3 Kruppel-like factor 3 (basic)
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LARGE like-glycosyltransferase
LATS2 large tumor suppressor kinase 2
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
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
MAPK1 mitogen-activated protein kinase 1
MAPK11 mitogen-activated protein kinase 11
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
MARVELD2 MARVEL domain containing 2
MB myoglobin
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
MEOX2 mesenchyme homeobox 2
MEST mesoderm specific transcript
MFSD8 major facilitator superfamily domain containing 8
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIR208A microRNA 208a
MKL1 megakaryoblastic leukemia (translocation) 1
MKL2 MKL/myocardin-like 2
MORF4L1 mortality factor 4 like 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
NF1 neurofibromin 1
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NGF nerve growth factor (beta polypeptide)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOS2 nitric oxide synthase 2, inducible
NOTCH1 notch 1
NOTCH2 notch 2
NPPB natriuretic peptide B
NPR1 natriuretic peptide receptor 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRG1 neuregulin 1
NTF3 neurotrophin 3
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OVOL2 ovo-like zinc finger 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PDCD10 programmed cell death 10
PDGFRB platelet-derived growth factor receptor, beta polypeptide
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
PIKFYVE phosphoinositide kinase, FYVE finger containing
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKP2 plakophilin 2
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLEC plectin
PLIN4 perilipin 4
PMM2 phosphomannomutase 2
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
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDM6 PR domain containing 6
PRKCA protein kinase C, alpha
PTCD2 pentatricopeptide repeat domain 2
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
QKI QKI, KH domain containing, RNA binding
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1CC1 RB1-inducible coiled-coil 1
RBL2 retinoblastoma-like 2
RBM20 RNA binding motif protein 20
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RCAN1 regulator of calcineurin 1
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SALL4 spalt-like transcription factor 4
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGPL1 sphingosine-1-phosphate lyase 1
SGSH N-sulfoglucosamine sulfohydrolase
SH3PXD2B SH3 and PX domains 2B
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHH sonic hedgehog
SIRT7 sirtuin 7
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
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
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPTA1 spectrin, alpha, erythrocytic 1
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTB spectrin, beta, erythrocytic
SPTBN1 spectrin, beta, non-erythrocytic 1
SRSF10 serine/arginine-rich splicing factor 10
SUFU suppressor of fused homolog (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBX18 T-box 18
TCF21 transcription factor 21
TDG thymine-DNA glycosylase
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TEK TEK tyrosine kinase, endothelial
TERC telomerase RNA component
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TGM2 transglutaminase 2
TK2 thymidine kinase 2, mitochondrial
TMEM100 transmembrane protein 100
TMOD1 tropomodulin 1
TMSB4X thymosin beta 4, X-linked
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
TSC2 tuberous sclerosis 2
TTN titin
TXNRD2 thioredoxin reductase 2
UBE4B ubiquitination factor E4B
UBP1 upstream binding protein 1 (LBP-1a)
UTF1 undifferentiated embryonic cell transcription factor 1
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VCAM1 vascular cell adhesion molecule 1
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
WT1 Wilms tumor 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
ZFPM2 zinc finger protein, FOG family member 2