abnormal myocardial fiber physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the function of the terminally differentiated, non-proliferative, multinucleated muscle cells of the heart (Mammalian Phenotype Ontology, MP_0004215)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004215
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Genes

91 gene mutations causing the abnormal myocardial fiber physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTC1 actin, alpha, cardiac muscle 1
ADM adrenomedullin
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKAP12 A kinase (PRKA) anchor protein 12
APLN apelin
APLNR apelin receptor
AQP1 aquaporin 1 (Colton blood group)
ASPH aspartate beta-hydroxylase
ATE1 arginyltransferase 1
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BAG3 BCL2-associated athanogene 3
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CALCRL calcitonin receptor-like
CALR calreticulin
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASQ2 calsequestrin 2 (cardiac muscle)
CHD7 chromodomain helicase DNA binding protein 7
COX1
CRHR2 corticotropin releasing hormone receptor 2
CXADR coxsackie virus and adenovirus receptor
DES desmin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNM1L dynamin 1-like
EPO erythropoietin
EPOR erythropoietin receptor
ESRRG estrogen-related receptor gamma
FGF2 fibroblast growth factor 2 (basic)
GJA1 gap junction protein, alpha 1, 43kDa
GLRX3 glutaredoxin 3
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3
HDAC2 histone deacetylase 2
HMOX1 heme oxygenase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
IL6ST interleukin 6 signal transducer
INPP5F inositol polyphosphate-5-phosphatase F
IVNS1ABP influenza virus NS1A binding protein
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIFAP3 kinesin-associated protein 3
LEP leptin
LOC102723475 putative uncharacterized protein LOC388820
MAOA monoamine oxidase A
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK1 mitogen-activated protein kinase 1
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MMP9 matrix metallopeptidase 9
MYBPC3 myosin binding protein C, cardiac
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
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS3 nitric oxide synthase 3 (endothelial cell)
PAX3 paired box 3
PLA2G5 phospholipase A2, group V
PLCE1 phospholipase C, epsilon 1
PLN phospholamban
PNPLA2 patatin-like phospholipase domain containing 2
PPARA peroxisome proliferator-activated receptor alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RYR2 ryanodine receptor 2 (cardiac)
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN3B sodium channel, voltage gated, type III beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SIRT7 sirtuin 7
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPHK1 sphingosine kinase 1
SRSF10 serine/arginine-rich splicing factor 10
STAT1 signal transducer and activator of transcription 1, 91kDa
TCAP titin-cap
TERC telomerase RNA component
TIMP4 TIMP metallopeptidase inhibitor 4
TNNT2 troponin T type 2 (cardiac)
TRIM54 tripartite motif containing 54
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TTN titin
UBE4B ubiquitination factor E4B
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XIRP2 xin actin binding repeat containing 2
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ZFPM2 zinc finger protein, FOG family member 2