DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Congenital muscular dystrophy (disorder) ×

Gene: COL6A3 ×

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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:	1293
Gene Symbol:	COL6A3

COL6A3

CUI:	C0699743
Disease:	Congenital muscular dystrophy (disorder)

Congenital muscular dystrophy (disorder)

0.100

GeneticVariation

CLINVAR

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

2016