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: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease 0.800 None 0.986 60 151 1984 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease 0.170 None 0.750 1 1 1995 2014
Entrez Id: 57697
Gene Symbol: FANCM
FANCM 		FA complementation group M 0.543 0.731 2.4E-15
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease 0.100 None 0 1