DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Congenital Fiber Type Disproportion ×

Gene: FKRP ×

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:	79147
Gene Symbol:	FKRP

FKRP

fukutin related protein

0.513

0.731

9.8E-06

CUI:	C0546264
Disease:	Congenital Fiber Type Disproportion

Congenital Fiber Type Disproportion

disease

0.200

None

1.000

0

2010

2016