nemaline myopathy Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. (Human Disease Ontology, DOID_3191)
Similar Terms
Downloads & Tools

Genes

8 genes involed in the disease nemaline myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
CFL2 cofilin 2 (muscle)
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KLHL40 kelch-like family member 40
NEB nebulin
TNNT1 troponin T type 1 (skeletal, slow)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3