DisGeNET - a database of gene-disease associations

Leigh Disease, C0023264

Variant: rs587776440 ×

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:

rs587776440

CYTB ; ND5

0.700

CausalMutation

CLINVAR

Clinical and molecular findings in children with complex I deficiency.

15576045

2004

dbSNP:

rs587776440

CYTB ; ND5

0.700

CausalMutation

CLINVAR

Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma.

15521990

2004

dbSNP:

rs587776440

CYTB ; ND5

0.700

CausalMutation

CLINVAR

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

14684687

2003

dbSNP:

rs587776440

CYTB ; ND5

0.700

CausalMutation

CLINVAR

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.

11198278

2001