DisGeNET - a database of gene-disease associations

Source: CLINVAR

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

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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:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

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

12145747

2002

Entrez Id:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

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

15728284

2005

Entrez Id:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

CausalMutation

CLINVAR

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

17444505

2007

Entrez Id:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

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:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

GeneticVariation

CLINVAR

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

18948003

2008

Entrez Id:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

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:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

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

21520333

2011

Entrez Id:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

CausalMutation

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012

Entrez Id:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

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:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

22526018

2012

Entrez Id:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

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:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

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

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

23486992

2014

Entrez Id:	7273
Gene Symbol:	TTN

TTN

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.800

CausalMutation

CLINVAR

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

23606733

2014