DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs104894858 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894858

LAMP2

0.700

CausalMutation

CLINVAR

Danon disease: further clinical and molecular heterogeneity.

19373884

2009

dbSNP:

rs104894858

LAMP2

0.700

CausalMutation

CLINVAR

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

19318653

2009

dbSNP:

rs104894858

LAMP2

0.700

CausalMutation

CLINVAR

Danon disease: an unusual presentation of autism.

18555174

2008

dbSNP:

rs104894858

LAMP2

0.700

CausalMutation

CLINVAR

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

16217705

2005

dbSNP:

rs104894858

LAMP2

0.700

CausalMutation

CLINVAR

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

15673802

2005