Gene: RYR1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.120 GeneticVariation disease BEFREE Here we broaden the spectrum of clinical manifestations associated with homozygous/compound heterozygous RYR1 gene variants to include a wide range of manifestations from FADS through neonatal hypotonia to a 35-year-old male with AMC and PhD degree. 30652412 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.120 GeneticVariation disease BEFREE First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. 19734047 2009
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.120 Biomarker disease HPO