OPA1, OPA1 mitochondrial dynamin like GTPase, 4976

N. diseases: 236; N. variants: 68
Disease: Ophthalmoplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.130 GeneticVariation phenotype LHGDN Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. 18065439 2008
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.130 GeneticVariation phenotype BEFREE We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in OPA1. 16158427 2005
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.130 GeneticVariation phenotype LHGDN This study describes a mutation in OPA1 causing a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia. 15531309 2004
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.130 Biomarker phenotype HPO