increased variability in muscle fiber diameter Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. (Human Phenotype Ontology, HP_0003557)
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14 genes associated with the increased variability in muscle fiber diameter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
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
TRIM32 tripartite motif containing 32