DisGeNET - a database of gene-disease associations

Source: ALL

Disease: 17-Hydroxysteroid Dehydrogenase Deficiency ×

Gene: HSD17B13 ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	345275
Gene Symbol:	HSD17B13

HSD17B13

hydroxysteroid 17-beta dehydrogenase 13

0.623

0.538

2.7E-05

CUI:	C0268296
Disease:	17-Hydroxysteroid Dehydrogenase Deficiency

17-Hydroxysteroid Dehydrogenase Deficiency

disease

0.010

None

1.000

0

2015

2015