OPA1, OPA1 mitochondrial dynamin like GTPase, 4976

N. diseases: 236; N. variants: 68
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 GeneticVariation phenotype BEFREE Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #210000). 27879217 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 GeneticVariation phenotype BEFREE Two families presented ataxia associated with autosomal, dominant, optic atrophy with an OPA1 mutation. 21892625 2012
CUI: C0004134
Disease: Ataxia
Ataxia 		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: C0004134
Disease: Ataxia
Ataxia 		0.130 Biomarker phenotype HPO