Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.700 CausalMutation CLINVAR Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. 15111688 2004
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.700 CausalMutation CLINVAR Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 14967777 2004
MERRF/MELAS OVERLAP SYNDROME
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
0.700 CausalMutation CLINVAR