DisGeNET - a database of gene-disease associations

Leigh Disease, C0023264

Variant: rs782349178 ×

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:

rs782349178

SURF1

0.700

CausalMutation

CLINVAR

SURF1 deficiency: a multi-centre natural history study.

23829769

2013

dbSNP:

rs782349178

SURF1

0.700

CausalMutation

CLINVAR

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.

22310368

2012

dbSNP:

rs782349178

SURF1

0.700

CausalMutation

CLINVAR

Leigh syndrome: MRI findings in two children.

21611066

2011

dbSNP:

rs782349178

SURF1

0.700

CausalMutation

CLINVAR

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

18583168

2009

dbSNP:

rs782349178

SURF1

0.700

CausalMutation

CLINVAR

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

16326995

2006