COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Disease: MELAS Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434458
rs121434458
Entrez Id: 4512;4513;4536;4553
Gene Symbol: COX1;COX2;ND2;TRNA
COX1;COX2;ND2;TRNA
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? 19718780 2009
dbSNP: rs121434458
rs121434458
Entrez Id: 4512;4513;4536;4553
Gene Symbol: COX1;COX2;ND2;TRNA
COX1;COX2;ND2;TRNA
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Pure myopathy associated with a novel mitochondrial tRNA gene mutation. 16476954 2006