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: 10111
Gene Symbol: RAD50
RAD50 		RAD50 double strand break repair protein 0.556 0.808 3.4E-27
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		disease 0.700 limited 1.000 12 15 2003 2017
Entrez Id: 101927761
Gene Symbol: TH2LCRR
TH2LCRR 		T helper type 2 locus control region associated RNA 0.751 0.385
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		disease 0.100 None 0 2