DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE ×

Gene: TTN ×

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:	7273
Gene Symbol:	TTN

TTN

CUI:	C1838244
Disease:	TIBIAL MUSCULAR DYSTROPHY, TARDIVE

TIBIAL MUSCULAR DYSTROPHY, TARDIVE

1.000

CausalMutation

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C1838244
Disease:	TIBIAL MUSCULAR DYSTROPHY, TARDIVE

TIBIAL MUSCULAR DYSTROPHY, TARDIVE

1.000

GeneticVariation

CLINVAR