Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
0.400 GeneticVariation disease UNIPROT Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. 18055910 2007
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
0.400 GeneticVariation disease UNIPROT Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. 16049925 2005
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
0.400 CausalMutation disease CLINVAR