Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 342035
Gene Symbol: GLDN
GLDN 		gliomedin 0.769 0.346 2.6E-13
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group 0.100 None 0 1