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 _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:

rs995029896

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs995029896

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Atypical phenotypes in titinopathies explained by second titin mutations.

24395473

2014

dbSNP:

rs995029896

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs995029896

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

18948003

2008

dbSNP:

rs974671846

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs974671846

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs943777958

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Atypical phenotypes in titinopathies explained by second titin mutations.

24395473

2014

dbSNP:

rs943777958

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

18948003

2008

dbSNP:

rs943777958

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs920201335

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs920201335

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs886044009

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs886044009

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs886042246

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

GGACT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs886039145

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs886039145

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs886039125

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs886039027

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs886039027

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs886038928

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs886038928

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs886038916

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

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

23975875

2013

dbSNP:

rs886038916

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

dbSNP:

rs878854378

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

dbSNP:

rs878854324

TTN ; TTN-AS1

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

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

GeneticVariation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015