rs762913101, MECR

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
CUI: C4310634
Disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
0.800 GeneticVariation UNIPROT MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. 27817865 2016
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
CUI: C4310634
Disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
0.800 CausalMutation CLINVAR
Childhood Onset Dystonias
CUI: C0752202
Disease: Childhood Onset Dystonias
0.700 GeneticVariation CLINVAR
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
0.700 GeneticVariation CLINVAR