DisGeNET - a database of gene-disease associations

MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17

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:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

23594557

2013

dbSNP:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs104893749

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

23594557

2013

dbSNP:

rs104893750

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

23594557

2013

dbSNP:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

21267010

2011

dbSNP:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

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

12707239

2003

dbSNP:

rs104893749

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

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

12707239

2003

dbSNP:

rs104893750

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

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

12707239

2003

dbSNP:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

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

12021217

2002

dbSNP:

rs104893749

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

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

12021217

2002

dbSNP:

rs104893750

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

GeneticVariation

UNIPROT

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

12021217

2002

dbSNP:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

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

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

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:

rs104893750

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

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:

rs104893748

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893749

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893750

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C1837471
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

0.800

CausalMutation

CLINVAR

dbSNP:

rs139794067

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

BEFREE

The heterozygous VUS MYL3<sub>(170C>A)</sub>-iPSC-CMs did not show an HCM phenotype at the gene expression, morphology, or functional levels.

29914921

2018

dbSNP:

rs139794067

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

CausalMutation

CLINVAR

dbSNP:

rs73065147

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C0730345
Disease:

Microalbuminuria

0.700

GeneticVariation

GWASCAT

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

31511532

2019

dbSNP:

rs6768627

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C0001925
Disease:

Albuminuria

0.700

GeneticVariation

GWASCAT

Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

30220432

2018

dbSNP:

rs6772151

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs6772151

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018