Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
AT 0.700 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
AT 0.700 CausalMutation CLINVAR SURF1 deficiency: a multi-centre natural history study. 23829769

2013
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
AT 0.700 CausalMutation CLINVAR SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
AT 0.700 CausalMutation CLINVAR Respiratory mutations lead to different pleiotropic effects on OXPHOS complexes in yeast and in human cells. 18804471

2008
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
AT 0.700 CausalMutation CLINVAR Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813

1998