DisGeNET - a database of gene-disease associations

Decreased activity of mitochondrial complex I, C2677650

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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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1468
Gene Symbol:	SLC25A10

SLC25A10

0.100

GeneticVariation

phenotype

CLINVAR

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

2018

Entrez Id:	54539
Gene Symbol:	NDUFB11

NDUFB11

0.100

Biomarker

phenotype

HPO

Entrez Id:	4716
Gene Symbol:	NDUFB10

NDUFB10

0.100

Biomarker

phenotype

HPO

Entrez Id:	4726
Gene Symbol:	NDUFS6

NDUFS6

0.100

Biomarker

phenotype

HPO

Entrez Id:	10102
Gene Symbol:	TSFM

TSFM

0.100

Biomarker

phenotype

HPO

Entrez Id:	91942
Gene Symbol:	NDUFAF2

NDUFAF2

0.100

Biomarker

phenotype

HPO

Entrez Id:	126328
Gene Symbol:	NDUFA11

NDUFA11

0.100

Biomarker

phenotype

HPO

Entrez Id:	23479
Gene Symbol:	ISCU

ISCU

0.100

Biomarker

phenotype

HPO

Entrez Id:	200205
Gene Symbol:	IBA57

IBA57

0.100

Biomarker

phenotype

HPO

Entrez Id:	28976
Gene Symbol:	ACAD9

ACAD9

0.100

Biomarker

phenotype

HPO

Entrez Id:	55687
Gene Symbol:	TRMU

TRMU

0.100

Biomarker

phenotype

HPO

Entrez Id:	124454
Gene Symbol:	EARS2

EARS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	115286
Gene Symbol:	SLC25A26

SLC25A26

0.100

Biomarker

phenotype

HPO

Entrez Id:	374291
Gene Symbol:	NDUFS7

NDUFS7

0.100

Biomarker

phenotype

HPO

Entrez Id:	4715
Gene Symbol:	NDUFB9

NDUFB9

0.100

Biomarker

phenotype

HPO

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	123263
Gene Symbol:	MTFMT

MTFMT

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	4722
Gene Symbol:	NDUFS3

NDUFS3

0.100

Biomarker

phenotype

HPO

Entrez Id:	51300
Gene Symbol:	TIMMDC1

TIMMDC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79133
Gene Symbol:	NDUFAF5

NDUFAF5

0.100

Biomarker

phenotype

HPO

Entrez Id:	4720
Gene Symbol:	NDUFS2

NDUFS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	25828
Gene Symbol:	TXN2

TXN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4709
Gene Symbol:	NDUFB3

NDUFB3

0.100

Biomarker

phenotype

HPO

Entrez Id:	4535
Gene Symbol:	ND1

ND1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4694
Gene Symbol:	NDUFA1

NDUFA1

0.100

Biomarker

phenotype

HPO