DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs727503118 ×

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:

rs727503118

LAMP2

0.700

CausalMutation

CLINVAR

Danon disease: focusing on heart.

22695892

2012

dbSNP:

rs727503118

LAMP2

0.700

CausalMutation

CLINVAR

Genetic basis of end-stage hypertrophic cardiomyopathy.

21896538

2011

dbSNP:

rs727503118

LAMP2

0.700

CausalMutation

CLINVAR

End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.

20445193

2010