centrally nucleated skeletal muscle fibers Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). (Human Phenotype Ontology, HP_0003687)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003687
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Genes

10 genes associated with the centrally nucleated skeletal muscle fibers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
BIN1 bridging integrator 1
DNM2 dynamin 2
MYH7 myosin, heavy chain 7, cardiac muscle, beta
SEPN1 selenoprotein N, 1
SIL1 SIL1 nucleotide exchange factor
TNPO3 transportin 3
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TTN titin