Source: CLINGEN

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 CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker CLINGEN Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538

2011
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker CLINGEN Cardiac contractile function in LAMP-2 deficient mice as a model for Danon disease is significantly attenuated. 16604439

2006
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker CLINGEN The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation. 15673802

2005
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker CLINGEN Fifty index cases were therefore included in molecular analysis (direct sequencing) of the lysosome associated membrane protein 2 (LAMP2) gene responsible for Danon's disease. 15253947

2004
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker CLINGEN This theory is further substantiated by the finding that human LAMP-2 deficiency causing Danon's disease is associated with the accumulation of autophagic material in striated myocytes. 10972293

2000
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker CLINGEN Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis. 10448712

1999
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 Biomarker CLINGEN An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner. 7488019

1995