DisGeNET - a database of gene-disease associations

ND3, NADH dehydrogenase, subunit 3 (complex I), 4537

N. diseases: 113; N. variants: 55

Disease: ATAXIA AND POLYNEUROPATHY, ADULT-ONSET ×

Variant: rs199476133 ×

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:

rs199476133

Entrez Id:	4508;4509;4514;4537;4538;4539
Gene Symbol:	ATP6;ATP8;COX3;ND3;ND4;ND4L

ATP6;ATP8;COX3;ND3;ND4;ND4L

CUI:	C1838916
Disease:

ATAXIA AND POLYNEUROPATHY, ADULT-ONSET

0.800

GeneticVariation

UNIPROT

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

18055910

2007

dbSNP:

rs199476133

Entrez Id:	4508;4509;4514;4537;4538;4539
Gene Symbol:	ATP6;ATP8;COX3;ND3;ND4;ND4L

ATP6;ATP8;COX3;ND3;ND4;ND4L

CUI:	C1838916
Disease:

ATAXIA AND POLYNEUROPATHY, ADULT-ONSET

0.800

GeneticVariation

UNIPROT

Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

16049925

2005

dbSNP:

rs199476133

Entrez Id:	4508;4509;4514;4537;4538;4539
Gene Symbol:	ATP6;ATP8;COX3;ND3;ND4;ND4L

ATP6;ATP8;COX3;ND3;ND4;ND4L

CUI:	C1838916
Disease:

ATAXIA AND POLYNEUROPATHY, ADULT-ONSET

0.800

CausalMutation

CLINVAR