DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Polyglucosan Body Disease, Adult Form ×

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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:	C1849722
Disease:	Polyglucosan Body Disease, Adult Form

Polyglucosan Body Disease, Adult Form

disease

0.800

None

1.000

1998

2018

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

TAR DNA binding protein

0.493

0.808

0.99

CUI:	C1849722
Disease:	Polyglucosan Body Disease, Adult Form

Polyglucosan Body Disease, Adult Form

disease

0.010

None

1.000

0

2013

2013

Entrez Id:	9333
Gene Symbol:	TGM5

TGM5

transglutaminase 5

0.656

0.615

2.4E-25

CUI:	C1849722
Disease:	Polyglucosan Body Disease, Adult Form

Polyglucosan Body Disease, Adult Form

disease

0.010

None

1.000

0

2017

2017