DisGeNET - a database of gene-disease associations

NDUFA6, NADH:ubiquinone oxidoreductase subunit A6, 4700

N. diseases: 57; N. variants: 6

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:

rs1023075742

Entrez Id:	4700;91689;100132273
Gene Symbol:	NDUFA6;SMDT1;NDUFA6-DT

NDUFA6;SMDT1;NDUFA6-DT

CUI:	C4748840
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

CausalMutation

CLINVAR

dbSNP:

rs1023075742

Entrez Id:	4700;91689;100132273
Gene Symbol:	NDUFA6;SMDT1;NDUFA6-DT

NDUFA6;SMDT1;NDUFA6-DT

CUI:	C0751651
Disease:

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs1569463838

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C0751651
Disease:

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs1569463838

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C4748840
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

CausalMutation

CLINVAR

dbSNP:

rs750830935

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C0751651
Disease:

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs750830935

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C4748840
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

CausalMutation

CLINVAR

dbSNP:

rs758833609

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C0751651
Disease:

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs758833609

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C4748840
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

CausalMutation

CLINVAR

dbSNP:

rs763006208

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C0751651
Disease:

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs763006208

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C4748840
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

CausalMutation

CLINVAR

dbSNP:

rs781099275

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C0751651
Disease:

Mitochondrial Diseases

0.700

CausalMutation

CLINVAR

dbSNP:

rs781099275

Entrez Id:	4700;91689
Gene Symbol:	NDUFA6;SMDT1

NDUFA6;SMDT1

CUI:	C4748840
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

CausalMutation

CLINVAR