DisGeNET - a database of gene-disease associations

Leigh Disease, C0023264

Variant: rs782490558 ×

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:

rs782490558

SURF1

0.700

CausalMutation

CLINVAR

Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.

26341968

2015

dbSNP:

rs782490558

SURF1

0.700

CausalMutation

CLINVAR

SURF1 deficiency: a multi-centre natural history study.

23829769

2013