DisGeNET - a database of gene-disease associations

Gross motor development delay, C1837658

Gene: RYR1 ×

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:	6261
Gene Symbol:	RYR1

RYR1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	6261
Gene Symbol:	RYR1

RYR1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	6261
Gene Symbol:	RYR1

RYR1

0.100

Biomarker

disease

HPO