DisGeNET - a database of gene-disease associations

Source: ALL

Disease: GSD IV, Neuromuscular Form, Childhood ×

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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:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1856305
Disease:	GSD IV, Neuromuscular Form, Childhood

GSD IV, Neuromuscular Form, Childhood

disease

0.400

None