DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: 3-Methylglutaconic aciduria type 3 ×

Gene: OPA3 ×

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:	80207
Gene Symbol:	OPA3

OPA3

CUI:	C0574084
Disease:	3-Methylglutaconic aciduria type 3

3-Methylglutaconic aciduria type 3

0.900

Biomarker

GENOMICS_ENGLAND

The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.

25657044

2015

Entrez Id:	80207
Gene Symbol:	OPA3

OPA3

CUI:	C0574084
Disease:	3-Methylglutaconic aciduria type 3

3-Methylglutaconic aciduria type 3

0.900

Biomarker

GENOMICS_ENGLAND

The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.

25657044

2015

Entrez Id:	80207
Gene Symbol:	OPA3

OPA3

CUI:	C0574084
Disease:	3-Methylglutaconic aciduria type 3

3-Methylglutaconic aciduria type 3

0.900

Biomarker

GENOMICS_ENGLAND

Is metabolic syndrome prevailing in Iraqi children?

24944951

2014

Entrez Id:	80207
Gene Symbol:	OPA3

OPA3

CUI:	C0574084
Disease:	3-Methylglutaconic aciduria type 3

3-Methylglutaconic aciduria type 3

0.900

Biomarker

GENOMICS_ENGLAND

Is metabolic syndrome prevailing in Iraqi children?

24944951

2014