DisGeNET - a database of gene-disease associations

MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28

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:

rs104894368

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

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:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

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:

rs104894370

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

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:

rs121913658

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

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:

rs104894368

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

CausalMutation

CLINVAR

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

26497160

2016

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

CLINVAR

Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.

26914223

2016

dbSNP:

rs104894368

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

25356965

2015

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

25356965

2015

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

CausalMutation

CLINVAR

Myosin regulatory light chain phosphorylation enhances cardiac β-myosin in vitro motility under load.

26116789

2015

dbSNP:

rs104894370

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

25356965

2015

dbSNP:

rs121913658

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

25356965

2015

dbSNP:

rs104894368

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

CausalMutation

CLINVAR

Impact of familial hypertrophic cardiomyopathy-linked mutations in the NH2 terminus of the RLC on β-myosin cross-bridge mechanics.

25324513

2014

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

CausalMutation

CLINVAR

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

dbSNP:

rs104894368

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

CausalMutation

CLINVAR

Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q.

23727233

2013

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

CausalMutation

CLINVAR

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

23283745

2013

dbSNP:

rs104894370

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs121913658

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs3782889

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C0010068
Disease:

Coronary heart disease

0.800

GeneticVariation

GWASCAT

A genome-wide association study of a coronary artery disease risk variant.

23364394

2013

dbSNP:

rs3782889

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C0010068
Disease:

Coronary heart disease

0.800

GeneticVariation

GWASDB

A genome-wide association study of a coronary artery disease risk variant.

23364394

2013

dbSNP:

rs104894368

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

21267010

2011

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

21267010

2011

dbSNP:

rs104894369

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

CausalMutation

CLINVAR

Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin.

21723297

2011

dbSNP:

rs104894370

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C1834460
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

0.800

GeneticVariation

UNIPROT

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

21267010

2011