DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J ×

Gene: TTN-AS1 ×

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:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

12145747

2002

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

15728284

2005

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

17444505

2007

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

GeneticVariation

CLINVAR

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

17444505

2007

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

18948003

2008

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

GeneticVariation

CLINVAR

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

18948003

2008

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

LOVD v.2.0: the next generation in gene variant databases.

21520333

2011

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

GeneticVariation

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

22526018

2012

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

23418287

2013

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

23486992

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Hereditary myopathy with early respiratory failure: occurrence in various populations.

23606733

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

GeneticVariation

CLINVAR

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

23975875

2013

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

23975875

2013

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

24105469

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

24119082

2013

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Atypical phenotypes in titinopathies explained by second titin mutations.

24395473

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

GeneticVariation

CLINVAR

Atypical phenotypes in titinopathies explained by second titin mutations.

24395473

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

24444549

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

24636144

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

A rising titan: TTN review and mutation update.

24980681

2014

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

GeneticVariation

CLINVAR

Atlas of the clinical genetics of human dilated cardiomyopathy.

25163546

2015

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

CausalMutation

CLINVAR

Atlas of the clinical genetics of human dilated cardiomyopathy.

25163546

2015

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.100

GeneticVariation

CLINVAR

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

25214167

2014