ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Disease: Ophthalmoplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 GeneticVariation phenotype BEFREE All three CFTD cases with ACTA1 mutations had severe congenital weakness and respiratory failure without ophthalmoplegia. 15468086 2004
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 Biomarker phenotype HPO