DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: 2-methyl-3-hydroxybutyric aciduria ×

Gene: HSD17B10 ×

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:	3028
Gene Symbol:	HSD17B10

HSD17B10

CUI:	C3266731
Disease:	2-methyl-3-hydroxybutyric aciduria

2-methyl-3-hydroxybutyric aciduria

0.750

CausalMutation

CLINVAR

Entrez Id:	3028
Gene Symbol:	HSD17B10

HSD17B10

CUI:	C3266731
Disease:	2-methyl-3-hydroxybutyric aciduria

2-methyl-3-hydroxybutyric aciduria

0.750

GeneticVariation

CLINVAR