DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Congenital myopathy (disorder) ×

Gene: RYR1 ×

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:	6261
Gene Symbol:	RYR1

RYR1

ryanodine receptor 1

0.489

0.808

1.6E-29

CUI:	C0270960
Disease:	Congenital myopathy (disorder)

Congenital myopathy (disorder)

group

0.400

strong

0.953

0

1993

2019