DisGeNET - a database of gene-disease associations

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Glycogen storage disease type II

CUI:	C0017921
Disease:	Glycogen storage disease type II

0.010

GeneticVariation

BEFREE

The rs10757278 on chromosome 9p21 is significantly associated with the risk of PCV but not with neovascular AMD in the Chinese Han population.

2011