DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neuromuscular Diseases ×

Gene: MYH7 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.100

CausalMutation

CLINVAR

A rare mutation in MYH7 gene occurs with overlapping phenotype.

25576864

2015

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.100

CausalMutation

CLINVAR

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

24664454

2014

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.100

CausalMutation

CLINVAR

Myosinopathies: pathology and mechanisms.

22918376

2013

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.100

CausalMutation

CLINVAR

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

21395566

2012

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.100

CausalMutation

CLINVAR

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

20733148

2010

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.100

CausalMutation

CLINVAR

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

19477645

2009

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.100

CausalMutation

CLINVAR

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

15322983

2004

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0027868
Disease:	Neuromuscular Diseases

Neuromuscular Diseases

0.100

CausalMutation

CLINVAR

The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.

12975303

2003