abnormal sarcoplasmic reticulum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly 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_0004088)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004088
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16 gene mutations causing the abnormal sarcoplasmic reticulum morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAMK2D calcium/calmodulin-dependent protein kinase II delta
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CASQ2 calsequestrin 2 (cardiac muscle)
CISD2 CDGSH iron sulfur domain 2
COL6A3 collagen, type VI, alpha 3
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
JPH1 junctophilin 1
MTMR14 myotubularin related protein 14
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4
RYR2 ryanodine receptor 2 (cardiac)
SRL sarcalumenin
SYPL2 synaptophysin-like 2
TRDN triadin