DisGeNET - a database of gene-disease associations

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT, C4225636

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1292
Gene Symbol:	COL6A2

COL6A2

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	1293
Gene Symbol:	COL6A3

COL6A3

0.100

CausalMutation

disease

CLINVAR