Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker GENOMICS_ENGLAND Here, we describe the clinical, pathologic, and molecular features of a male proband and his affected mother with Danon disease and a small LAMP2 microduplication. 24222494

2014
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker GENOMICS_ENGLAND Mimics of Hypertrophic Cardiomyopathy - Diagnostic Clues to Aid Early Identification of Phenocopies. 26835038

2013
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker GENOMICS_ENGLAND Natural history of Danon disease. 21415759

2011
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker GENOMICS_ENGLAND Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. 15907287

2005
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker GENOMICS_ENGLAND Danon disease is due to primary deficiency of lysosome-associated membrane protein-2. 12084876

2002
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker GENOMICS_ENGLAND From these results and the finding that LAMP-2-deficient mice manifest a similar vacuolar cardioskeletal myopathy, we conclude that primary LAMP-2 deficiency is the cause of Danon disease. 10972294

2000
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker GENOMICS_ENGLAND From these results and the finding that LAMP-2-deficient mice manifest a similar vacuolar cardioskeletal myopathy, we conclude that primary LAMP-2 deficiency is the cause of Danon disease. 10972294

2000