DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Type 1 muscle fiber predominance ×

Gene: COL6A2 ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	1292
Gene Symbol:	COL6A2

COL6A2

collagen type VI alpha 2 chain

0.599

0.692

6.5E-08

CUI:	C1854387
Disease:	Type 1 muscle fiber predominance

Type 1 muscle fiber predominance

phenotype

0.100

None

0