abnormality of skeletal muscle fiber size Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the size of the skeletal muscle cell. (Human Phenotype Ontology, HP_0012084)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012084
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Genes

16 genes associated with the abnormality of skeletal muscle fiber size phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DYSF dysferlin
FHL1 four and a half LIM domains 1
ITGA7 integrin, alpha 7
OPA1 optic atrophy 1 (autosomal dominant)
POLG polymerase (DNA directed), gamma
RYR1 ryanodine receptor 1 (skeletal)
SEPN1 selenoprotein N, 1
STIM1 stromal interaction molecule 1
TCAP titin-cap
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32