DisGeNET - a database of gene-disease associations

MHRT, myosin heavy chain associated RNA transcript, 104564225

N. diseases: 2; N. variants: 68

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:

rs121913654

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

BEFREE

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.

19138847

2009

dbSNP:

rs121913654

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

UNIPROT

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

17336526

2007

dbSNP:

rs28933098

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

UNIPROT

MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied.

17336526

2007

dbSNP:

rs28933098

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

BEFREE

MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied.

17336526

2007

dbSNP:

rs121913654

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

UNIPROT

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

16684601

2006

dbSNP:

rs28933098

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

UNIPROT

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

16684601

2006

dbSNP:

rs121913654

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

UNIPROT

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

15136674

2004

dbSNP:

rs28933098

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

UNIPROT

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

15136674

2004

dbSNP:

rs121913654

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

UNIPROT

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

14520662

2003

dbSNP:

rs28933098

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

GeneticVariation

UNIPROT

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

14520662

2003

dbSNP:

rs121913654

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

CausalMutation

CLINVAR

dbSNP:

rs28933098

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.810

CausalMutation

CLINVAR

dbSNP:

rs145734640

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1850709
Disease:

Myopathy, Hyaline Body, Autosomal Recessive

0.800

GeneticVariation

UNIPROT

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

25666907

2015

dbSNP:

rs121913647

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C4552004
Disease:

Distal Myopathy 1

0.800

GeneticVariation

UNIPROT

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

17548557

2007

dbSNP:

rs121913649

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.800

GeneticVariation

UNIPROT

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

17336526

2007

dbSNP:

rs28933098

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C0751337
Disease:

X-Linked Emery-Dreifuss Muscular Dystrophy

0.800

GeneticVariation

UNIPROT

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

17336526

2007

dbSNP:

rs121913649

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.800

GeneticVariation

UNIPROT

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

16684601

2006

dbSNP:

rs121913650

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C3495498
Disease:

Cardiomyopathy, Familial Hypertrophic, 1 (disorder)

0.800

GeneticVariation

UNIPROT

Gene mutations in apical hypertrophic cardiomyopathy.

16267253

2005

dbSNP:

rs121913647

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C4552004
Disease:

Distal Myopathy 1

0.800

GeneticVariation

UNIPROT

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

15322983

2004

dbSNP:

rs121913649

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.800

GeneticVariation

UNIPROT

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

15136674

2004

dbSNP:

rs121913650

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C3495498
Disease:

Cardiomyopathy, Familial Hypertrophic, 1 (disorder)

0.800

GeneticVariation

UNIPROT

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

15358028

2004

dbSNP:

rs121913649

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C1842160
Disease:

MYOPATHY, MYOSIN STORAGE (disorder)

0.800

GeneticVariation

UNIPROT

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

14520662

2003

dbSNP:

rs121913650

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C3495498
Disease:

Cardiomyopathy, Familial Hypertrophic, 1 (disorder)

0.800

GeneticVariation

UNIPROT

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

12974739

2003

dbSNP:

rs121913650

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C3495498
Disease:

Cardiomyopathy, Familial Hypertrophic, 1 (disorder)

0.800

GeneticVariation

UNIPROT

"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

12951062

2003

dbSNP:

rs121913650

Entrez Id:	4625;104564225
Gene Symbol:	MYH7;MHRT

MYH7;MHRT

CUI:	C3495498
Disease:

Cardiomyopathy, Familial Hypertrophic, 1 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

12975413

2003