dilated sarcoplasmic reticulum Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description an expansion in the volume in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere (Mammalian Phenotype Ontology, MP_0004089)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004089
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6 gene mutations causing the dilated sarcoplasmic reticulum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CISD2 CDGSH iron sulfur domain 2
COL6A3 collagen, type VI, alpha 3
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
MTMR14 myotubularin related protein 14