DisGeNET - a database of gene-disease associations

NDUFAF3, NADH:ubiquinone oxidoreductase complex assembly factor 3, 25915

N. diseases: 101; N. variants: 4

Disease: Leukoencephalopathy ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0270612
Disease:	Leukoencephalopathy

Leukoencephalopathy

0.110

GeneticVariation

group

BEFREE

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.

2018

CUI:	C0270612
Disease:	Leukoencephalopathy

Leukoencephalopathy

0.110

Biomarker

group

HPO