DisGeNET - a database of gene-disease associations

Leigh Disease, C0023264

Variant: rs782190413 ×

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:

rs782190413

SURF1

0.700

CausalMutation

CLINVAR

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

27896082

2014

dbSNP:

rs782190413

SURF1

0.700

CausalMutation

CLINVAR

SURF1 deficiency: a multi-centre natural history study.

23829769

2013

dbSNP:

rs782190413

SURF1

0.700

CausalMutation

CLINVAR

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

24027061

2013

dbSNP:

rs782190413

SURF1

0.700

CausalMutation

CLINVAR

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

16542579

2006

dbSNP:

rs782190413

SURF1

0.700

CausalMutation

CLINVAR

[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].

12515039

2002