Nemaline Myopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0546125
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Genes

16 genes associated with the disease Nemaline Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
C16ORF82 chromosome 16 open reading frame 82
CFL2 cofilin 2 (muscle)
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KLHL40 kelch-like family member 40
KLHL41 kelch-like family member 41
LMOD3 leiomodin 3 (fetal)
MYPN myopalladin
NEB nebulin
RIF1 replication timing regulatory factor 1
TNNT1 troponin T type 1 (skeletal, slow)
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TTN titin