Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.300 Biomarker GENOMICS_ENGLAND Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum. 26932181

2016