DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Maternally Inherited Leigh Syndrome ×

Gene: ND1 ×

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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:	4535
Gene Symbol:	ND1

ND1

CUI:	C2931092
Disease:	Maternally Inherited Leigh Syndrome

Maternally Inherited Leigh Syndrome

0.300

GermlineCausalMutation

ORPHANET

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

2014