DisGeNET - a database of gene-disease associations

Leigh Disease, C0023264

Variant: rs782316919 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs782316919

SURF1

0.700

CausalMutation

CLINVAR

SURF1 deficiency: a multi-centre natural history study.

23829769

2013

dbSNP:

rs782316919

SURF1

0.700

CausalMutation

CLINVAR

SURF1-associated Leigh syndrome: a case series and novel mutations.

22488715

2012

dbSNP:

rs782316919

SURF1

0.700

CausalMutation

CLINVAR

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

18583168

2009

dbSNP:

rs782316919

SURF1

0.700

CausalMutation

CLINVAR

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

16326995

2006

dbSNP:

rs782316919

SURF1

0.700

CausalMutation

CLINVAR

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

9837813

1998