DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Myopathy ×

Gene: COL6A3 ×

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:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C0026848
Disease:	Myopathy

Myopathy

0.140

CausalMutation

CLINVAR

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C0026848
Disease:	Myopathy

Myopathy

0.140

GeneticVariation

CLINVAR