DisGeNET - a database of gene-disease associations

ATP8, ATP synthase F0 subunit 8, 4509

N. diseases: 43; N. variants: 66

Disease: Mitochondrial Diseases ×

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:

rs1131692064

rs1131692064

Entrez Id:	4508;4509;4513;4514
Gene Symbol:	ATP6;ATP8;COX2;COX3

ATP6;ATP8;COX2;COX3

CUI:	C0751651
Disease:

Mitochondrial Diseases

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs118192098

rs118192098

Entrez Id:	4508;4509;4513;4514;4537;4566
Gene Symbol:	ATP6;ATP8;COX2;COX3;ND3;TRNK

ATP6;ATP8;COX2;COX3;ND3;TRNK

CUI:	C0751651
Disease:

Mitochondrial Diseases

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs1556423547

rs1556423547

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

ATP6;ATP8;COX3;ND3;ND4;ND4L

CUI:	C0751651
Disease:

Mitochondrial Diseases

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs199476133

rs199476133

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

ATP6;ATP8;COX3;ND3;ND4;ND4L

CUI:	C0751651
Disease:

Mitochondrial Diseases

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs199476133

rs199476133

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

ATP6;ATP8;COX3;ND3;ND4;ND4L

CUI:	C0751651
Disease:

Mitochondrial Diseases

C

0.700

CausalMutation

CLINVAR