DisGeNET - a database of gene-disease associations

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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:	54539
Gene Symbol:	NDUFB11

NDUFB11

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.400

GeneticVariation

ORPHANET

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

2016