abnormal muscle relaxation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description altered ability of the muscle to lengthen following contractions (Mammalian Phenotype Ontology, MP_0004036)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004036
Similar Terms
Downloads & Tools

Genes

42 gene mutations causing the abnormal muscle relaxation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
APOE apolipoprotein E
AR androgen receptor
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2A3 ATPase, Ca++ transporting, ubiquitous
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CLCN1 chloride channel, voltage-sensitive 1
COL19A1 collagen, type XIX, alpha 1
DES desmin
DMD dystrophin
DNM1L dynamin 1-like
FGF2 fibroblast growth factor 2 (basic)
GLRX3 glutaredoxin 3
HMOX2 heme oxygenase 2
HPRT1 hypoxanthine phosphoribosyltransferase 1
IDUA iduronidase, alpha-L-
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
MBNL2 muscleblind-like splicing regulator 2
MRVI1 murine retrovirus integration site 1 homolog
MTMR14 myotubularin related protein 14
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYLK myosin light chain kinase
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPR2 natriuretic peptide receptor 2
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLN phospholamban
PRKG1 protein kinase, cGMP-dependent, type I
RXRG retinoid X receptor, gamma
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SRL sarcalumenin
TARDBP TAR DNA binding protein
TERC telomerase RNA component
TIMP3 TIMP metallopeptidase inhibitor 3
VEGFA vascular endothelial growth factor A