abnormal myocardial fiber morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart (Mammalian Phenotype Ontology, MP_0000278)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000278
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Genes

128 gene mutations causing the abnormal myocardial fiber 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
ADAM17 ADAM metallopeptidase domain 17
AGTR2 angiotensin II receptor, type 2
AKAP12 A kinase (PRKA) anchor protein 12
AKT1 v-akt murine thymoma viral oncogene homolog 1
ASL argininosuccinate lyase
ATE1 arginyltransferase 1
BAG3 BCL2-associated athanogene 3
BCAR1 breast cancer anti-estrogen resistance 1
BCL6 B-cell CLL/lymphoma 6
BIN1 bridging integrator 1
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CALR calreticulin
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
CHD2 chromodomain helicase DNA binding protein 2
CLU clusterin
COX1
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
DMD dystrophin
DNM1L dynamin 1-like
DTNA dystrobrevin, alpha
EMD emerin
EPO erythropoietin
ESR2 estrogen receptor 2 (ER beta)
FGFR1 fibroblast growth factor receptor 1
FOXM1 forkhead box M1
FXR1 fragile X mental retardation, autosomal homolog 1
GAA glucosidase, alpha; acid
GATA5 GATA binding protein 5
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBEGF heparin-binding EGF-like growth factor
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HIF3A hypoxia inducible factor 3, alpha subunit
HOPX HOP homeobox
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IGHMBP2 immunoglobulin mu binding protein 2
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JARID2 jumonji, AT rich interactive domain 2
JPH2 junctophilin 2
JUP junction plakoglobin
KLF15 Kruppel-like factor 15
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LARGE like-glycosyltransferase
LEP leptin
LEPR leptin receptor
LMNA lamin A/C
LTBP4 latent transforming growth factor beta binding protein 4
MAP1S microtubule-associated protein 1S
MARVELD2 MARVEL domain containing 2
MED30 mediator complex subunit 30
MFSD8 major facilitator superfamily domain containing 8
MKL1 megakaryoblastic leukemia (translocation) 1
MPZL3 myelin protein zero-like 3
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
MYL7 myosin, light chain 7, regulatory
MYLK3 myosin light chain kinase 3
MYO18B myosin XVIIIB
MYOZ2 myozenin 2
NEK6 NIMA-related kinase 6
NGF nerve growth factor (beta polypeptide)
NPPB natriuretic peptide B
PEPD peptidase D
PHIP pleckstrin homology domain interacting protein
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLEC plectin
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
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
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2
RYR2 ryanodine receptor 2 (cardiac)
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SGPL1 sphingosine-1-phosphate lyase 1
SIRT7 sirtuin 7
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 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
TERC telomerase RNA component
TGFBR3 transforming growth factor, beta receptor III
TK2 thymidine kinase 2, mitochondrial
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
UBE4B ubiquitination factor E4B
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)
XIRP1 xin actin binding repeat containing 1
XIRP2 xin actin binding repeat containing 2