DisGeNET - a database of gene-disease associations

PHKB, phosphorylase kinase regulatory subunit beta, 5257

N. diseases: 22; N. variants: 6

Disease: Glycogen Storage Disease IXB ×

Variant: rs797044442 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs797044442

rs797044442

Entrez Id:	5257
Gene Symbol:	PHKB

PHKB

CUI:	C0543514
Disease:

Glycogen Storage Disease IXB

G

0.700

CausalMutation

CLINVAR