nemaline bodies Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. (Human Phenotype Ontology, HP_0003798)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003798
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Genes

8 genes associated with the nemaline bodies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
CFL2 cofilin 2 (muscle)
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
NEB nebulin
RYR1 ryanodine receptor 1 (skeletal)
TNNT1 troponin T type 1 (skeletal, slow)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3