ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: Cerebellar atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy. 31106992 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951 2014
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 Biomarker disease HPO