Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group BEFREE Phenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy. 31228518 2019
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group BEFREE A genetic LAMP2 defect causes Danon disease, which consists of two major phenotypes of myopathy and cardiomyopathy. 29463847 2018
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 AlteredExpression group BEFREE Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy). 28874292 2017
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 GeneticVariation group BEFREE Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene. 27145725 2016
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group BEFREE Danon disease is an X-linked disorder that leads to fatal cardiomyopathy caused by a deficiency in lysosome-associated membrane protein-2 (LAMP2). 27678261 2016
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group BEFREE We investigated the explanted heart and skeletal muscle biopsies in two girls, aged ten and thirteen years, who underwent cardiac transplantation because of hypertrophic cardiomyopathy secondary to LAMP2 mutations and a 41-year old female with late-onset familial LAMP2 cardiomyopathy with more typical clinical phenotype. 25900304 2015
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group BEFREE Danon disease is a rare X-linked lysosomal disease causing severe hypertrophic cardiomyopathy (LAMP2 cardiomyopathy) and an extremely poor prognosis in males, with several reported cases of sudden cardiac death despite the use of transvenous implantable cardioverter defibrillators (TV-ICD). 23577876 2013
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group BEFREE Profound left ventricular remodeling associated with LAMP2 cardiomyopathy. 20920663 2010
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 AlteredExpression group BEFREE To determine the clinical consequences, outcome, and phenotypic expression of LAMP2 cardiomyopathy associated with diagnostic and management strategies. 19318653 2009
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 GeneticVariation group BEFREE Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. 18282207 2008
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group BEFREE Primary lysosome-associated membrane protein-2 (LAMP-2) deficiency is an X-linked disease, characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation, previously known as Danon disease. 15907287 2005
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 GeneticVariation group LHGDN Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 15673802 2005
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group BEFREE Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. 10972293 2000
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 Biomarker group GENOMICS_ENGLAND
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.500 CausalMutation group CLINVAR