DisGeNET - a database of gene-disease associations

LAMP2, lysosomal associated membrane protein 2, 3920

N. diseases: 134; N. variants: 44

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894859

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.800

GeneticVariation

UNIPROT

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

25173338

2014

dbSNP:

rs104894859

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.800

GeneticVariation

UNIPROT

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

15673802

2005

dbSNP:

rs104894859

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.800

GeneticVariation

UNIPROT

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

15907287

2005

dbSNP:

rs104894859

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894857

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

CausalMutation

CLINVAR

Using whole-exome sequencing, we identified a nonsense mutation (c.520C>T, exon 4) of the LAMP2 gene in a family with Danon disease.

27678261

2016

dbSNP:

rs104894857

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

GeneticVariation

BEFREE

Using whole-exome sequencing, we identified a nonsense mutation (c.520C>T, exon 4) of the LAMP2 gene in a family with Danon disease.

27678261

2016

dbSNP:

rs104894858

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

CausalMutation

CLINVAR

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

19318653

2009

dbSNP:

rs104894858

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

CausalMutation

CLINVAR

Danon disease: further clinical and molecular heterogeneity.

19373884

2009

dbSNP:

rs104894858

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

CausalMutation

CLINVAR

Danon disease: an unusual presentation of autism.

18555174

2008

dbSNP:

rs104894858

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

CausalMutation

CLINVAR

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

15673802

2005

dbSNP:

rs104894858

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

CausalMutation

CLINVAR

We describe two cases of Danon disease with different clinical presentation, in whom we identified the same exon skipping mutation c.928G>A in the LAMP-2 gene.

16217705

2005

dbSNP:

rs104894858

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

GeneticVariation

BEFREE

We describe two cases of Danon disease with different clinical presentation, in whom we identified the same exon skipping mutation c.928G>A in the LAMP-2 gene.

16217705

2005

dbSNP:

rs104894857

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.710

CausalMutation

CLINVAR

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.

15253947

2004

dbSNP:

rs727503120

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

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

27532257

2017

dbSNP:

rs1556092459

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.

27179547

2016

dbSNP:

rs397516751

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes.

25458169

2015

dbSNP:

rs727503118

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Danon disease: focusing on heart.

22695892

2012

dbSNP:

rs727503118

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Danon disease: focusing on heart.

22695892

2012

dbSNP:

rs876657696

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Sudden death associated with danon disease in women.

22074992

2012

dbSNP:

rs1060502302

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Natural history of Danon disease.

21415759

2011

dbSNP:

rs1060502305

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Natural history of Danon disease.

21415759

2011

dbSNP:

rs1556101523

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Natural history of Danon disease.

21415759

2011

dbSNP:

rs727503118

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.700

CausalMutation

CLINVAR

Genetic basis of end-stage hypertrophic cardiomyopathy.

21896538

2011

dbSNP:

rs727503118

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Genetic basis of end-stage hypertrophic cardiomyopathy.

21896538

2011

dbSNP:

rs727503120

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0878677
Disease:

Glycogen Storage Disease Type IIb

0.700

CausalMutation

CLINVAR

Natural history of Danon disease.

21415759

2011