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: rs727504953
rs727504953
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease:
Glycogen Storage Disease Type IIb 		0.010 GeneticVariation BEFREE Furthermore, this study illustrates the importance of utilizing a molecular diagnostic approach in HCM patients and is the first study to report a LAMP2 p.G93R mutation associated with mild DD and identify that XCI serves a protective role in DD etiology. 31464081 2019