Disease: Glycogen Storage Disease Type IIb ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503120
rs727503120
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease:
Glycogen Storage Disease Type IIb 		T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs727503120
rs727503120
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease:
Glycogen Storage Disease Type IIb 		T 0.700 CausalMutation CLINVAR Natural history of Danon disease. 21415759 2011