DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Leigh Disease ×

Gene: NDUFS1 ×

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4719
Gene Symbol:	NDUFS1

NDUFS1

CUI:	C0023264
Disease:	Leigh Disease

Leigh Disease

0.520

Biomarker

GENOMICS_ENGLAND

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

2015

Entrez Id:	4719
Gene Symbol:	NDUFS1

NDUFS1

CUI:	C0023264
Disease:	Leigh Disease

Leigh Disease

0.520

Biomarker

GENOMICS_ENGLAND

Entrez Id:	4719
Gene Symbol:	NDUFS1

NDUFS1

CUI:	C0023264
Disease:	Leigh Disease

Leigh Disease

0.520

Biomarker

GENOMICS_ENGLAND