DisGeNET - a database of gene-disease associations

ND4, NADH dehydrogenase, subunit 4 (complex I), 4538

N. diseases: 214; N. variants: 54

Disease: Leigh Disease ×

Variant: rs199476117 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199476117

Entrez Id:	4514;4537;4538;4539
Gene Symbol:	COX3;ND3;ND4;ND4L

COX3;ND3;ND4;ND4L

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.

16023078

2005

dbSNP:

rs199476117

Entrez Id:	4514;4537;4538;4539
Gene Symbol:	COX3;ND3;ND4;ND4L

COX3;ND3;ND4;ND4L

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

14764913

2004

dbSNP:

rs199476117

Entrez Id:	4514;4537;4538;4539
Gene Symbol:	COX3;ND3;ND4;ND4L

COX3;ND3;ND4;ND4L

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

Clinical and molecular findings in children with complex I deficiency.

15576045

2004

dbSNP:

rs199476117

Entrez Id:	4514;4537;4538;4539
Gene Symbol:	COX3;ND3;ND4;ND4L

COX3;ND3;ND4;ND4L

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

14684687

2003