Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782061187
rs782061187
SURF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India. 26762927

2016
dbSNP: rs782061187
rs782061187
SURF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia. 26443249

2015
dbSNP: rs782061187
rs782061187
SURF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR SURF1 deficiency: a multi-centre natural history study. 23829769

2013
dbSNP: rs782061187
rs782061187
SURF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012
dbSNP: rs782061187
rs782061187
SURF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR SURF1 missense mutations promote a mild Leigh phenotype. 19780766

2009
dbSNP: rs782061187
rs782061187
SURF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations. 16225813

2005
dbSNP: rs782061187
rs782061187
SURF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813

1998