Disease: Glycogen storage disease type II ×
Source: ALL
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 R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. 17666404 2007