DisGeNET - a database of gene-disease associations

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8, C1837471

Variant: rs104893749 ×

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:

rs104893749

MYL3

0.800

GeneticVariation

UNIPROT

Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

23594557

2013

dbSNP:

rs104893749

MYL3

0.800

GeneticVariation

UNIPROT

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

12707239

2003

dbSNP:

rs104893749

MYL3

0.800

GeneticVariation

UNIPROT

Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.

12021217

2002

dbSNP:

rs104893749

MYL3

0.800

GeneticVariation

UNIPROT

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

8673105

1996

dbSNP:

rs104893749

MYL3

0.800

CausalMutation

CLINVAR