DisGeNET - a database of gene-disease associations

Source: MGD

Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency ×

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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:	3290
Gene Symbol:	HSD11B1

HSD11B1

hydroxysteroid 11-beta dehydrogenase 1

0.520

0.731

0.42

CUI:	C4329210
Disease:	11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency

11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency

disease

0.200

None

1.000

0

1997

2004