Congenital myopathy 2a, typical, autosomal dominant

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Subtype of: Congenital myopathy
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Congenital myopathy 2A, typical, autosomal dominant
MONDO_0008070
ACTA1 Unknown
15236405 15198992 23650303 16945537 15336687 25938801 25635128 11166164 17705262 15520409 11333380 16427282 10508519 22442437 29274205 12921789
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Congenital myopathy 2a, typical, autosomal dominant.
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Alpha-actinopathy 1 shared geneACTA1 Related via 1 shared gene including ACTA1. Zebra body myopathy 1 shared geneACTA1 Related via 1 shared gene including ACTA1. Nemaline myopathy 3, autosomal dominant or recessive 1 shared geneACTA1 Related via 1 shared gene including ACTA1. Myopathy, actin, congenital, with excess of thin myofilaments 1 shared geneACTA1 Related via 1 shared gene including ACTA1. Congenital myopathy 2b, severe infantile, autosomal recessive 1 shared geneACTA1 Related via 1 shared gene including ACTA1.