DisGeNET - a database of gene-disease associations

Leigh Disease, C0023264

Variant: rs782007828 ×

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:

rs782007828

SURF1

0.700

GeneticVariation

CLINVAR

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

25629267

2014

dbSNP:

rs782007828

SURF1

0.700

GeneticVariation

CLINVAR

SURF1 deficiency: a multi-centre natural history study.

23829769

2013

dbSNP:

rs782007828

SURF1

0.700

GeneticVariation

CLINVAR

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

22410471

2012