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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1023075742

1.000

42090742

start lost

C/T

snv

4.0E-06

2.1E-05

CUI:	C4748840
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

dbSNP:

rs1023075742

1.000

42090742

start lost

C/T

snv

4.0E-06

2.1E-05

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

Nutritional and Metabolic Diseases

0.700

dbSNP:

rs1569463838

1.000

42086238

frameshift variant

CT/-

delins

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

Nutritional and Metabolic Diseases

0.700

dbSNP:

rs1569463838

1.000

42086238

frameshift variant

CT/-

delins

CUI:	C4748840
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

dbSNP:

rs750830935

1.000

42087124

missense variant

C/G;T

snv

1.1E-04

1.4E-05

CUI:	C4748840
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

dbSNP:

rs750830935

1.000

42087124

missense variant

C/G;T

snv

1.1E-04

1.4E-05

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

Nutritional and Metabolic Diseases

0.700

dbSNP:

rs758833609

1.000

42086305

stop gained

C/A;T

snv

8.0E-06; 4.4E-05

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

Nutritional and Metabolic Diseases

0.700

dbSNP:

rs758833609

1.000

42086305

stop gained

C/A;T

snv

8.0E-06; 4.4E-05

CUI:	C4748840
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

dbSNP:

rs763006208

1.000

42086261

frameshift variant

A/-

delins

1.1E-04

CUI:	C4748840
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

dbSNP:

rs763006208

1.000

42086261

frameshift variant

A/-

delins

1.1E-04

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

Nutritional and Metabolic Diseases

0.700

dbSNP:

rs781099275

1.000

42086215

frameshift variant

G/-

delins

4.0E-06

CUI:	C4748840
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33

0.700

dbSNP:

rs781099275

1.000

42086215

frameshift variant

G/-

delins

4.0E-06

CUI:	C0751651
Disease:	Mitochondrial Diseases

Mitochondrial Diseases

Nutritional and Metabolic Diseases

0.700