DisGeNET - a database of gene-disease associations

Source: CURATED

Gene: NDUFAF5 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs757043077

NDUFAF5

0.882

0.120

13808873

missense variant

G/T

snv

4.0E-06; 4.4E-05

1.4E-05

CUI:	C4748785
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

0.800

1.000

2008

2012

dbSNP:

rs118203929

NDUFAF5

1.000

13801652

missense variant

T/C

snv

2.0E-05

CUI:	C4748785
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

0.800

dbSNP:

rs267606689

NDUFAF5

1.000

13794939

missense variant

A/C

snv

CUI:	C4748785
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

0.800

dbSNP:

rs757043077

NDUFAF5

0.882

0.120

13808873

missense variant

G/T

snv

4.0E-06; 4.4E-05

1.4E-05

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.700

1.000

2012

dbSNP:

rs1555830705

NDUFAF5

1.000

0.160

13788615

missense variant

G/A

snv

CUI:	C4304725
Disease:	Leber plus disease

Leber plus disease

0.700

dbSNP:

rs778575439

NDUFAF5

1.000

0.160

13817195

frameshift variant

-/A

delins

4.0E-06

2.1E-05

CUI:	C4304725
Disease:	Leber plus disease

Leber plus disease

0.700