DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Glycogen Storage Disease Type IV ×

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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:	10616
Gene Symbol:	RBCK1

RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1

0.736

0.462

0.13

CUI:	C0017923
Disease:	Glycogen Storage Disease Type IV

Glycogen Storage Disease Type IV

disease

0.130

None

1.000

2012

2015