DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE ×

Variant: rs267607156 ×

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:

rs267607156

TTN ; TTN-AS1

CUI:	C1838244
Disease:	TIBIAL MUSCULAR DYSTROPHY, TARDIVE

TIBIAL MUSCULAR DYSTROPHY, TARDIVE

0.800

GeneticVariation

UNIPROT

Tibial muscular dystrophy in a Belgian family.

12891679

2003

dbSNP:

rs267607156

TTN ; TTN-AS1

CUI:	C1838244
Disease:	TIBIAL MUSCULAR DYSTROPHY, TARDIVE

TIBIAL MUSCULAR DYSTROPHY, TARDIVE

0.800

GeneticVariation

UNIPROT

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

12145747

2002

dbSNP:

rs267607156

TTN ; TTN-AS1

CUI:	C1838244
Disease:	TIBIAL MUSCULAR DYSTROPHY, TARDIVE

TIBIAL MUSCULAR DYSTROPHY, TARDIVE

0.800

CausalMutation

CLINVAR