DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII ×

Gene: HTRA2 ×

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:	27429
Gene Symbol:	HTRA2

HTRA2

CUI:	C4310650
Disease:	3-METHYLGLUTACONIC ACIDURIA, TYPE VIII

3-METHYLGLUTACONIC ACIDURIA, TYPE VIII

0.600

GeneticVariation

UNIPROT

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

27696117

2017

Entrez Id:	27429
Gene Symbol:	HTRA2

HTRA2

CUI:	C4310650
Disease:	3-METHYLGLUTACONIC ACIDURIA, TYPE VIII

3-METHYLGLUTACONIC ACIDURIA, TYPE VIII

0.600

GeneticVariation

UNIPROT

Deficiency of HTRA2Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

27208207

2016