DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Glycogen Storage Disease ×

Gene: PHKA1 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5255
Gene Symbol:	PHKA1

PHKA1

CUI:	C0017919
Disease:	Glycogen Storage Disease

Glycogen Storage Disease

0.220

Biomarker

MGD

The X-chromosome and the enzymes controlling muscle glycogen: phosphorylase kinase.

1970