Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia
0.110 GeneticVariation phenotype BEFREE Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of ataxia and spasticity. 26190011 2015
CUI: C0004134
Disease: Ataxia
Ataxia
0.110 Biomarker phenotype HPO