Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7157
Gene Symbol: TP53
TP53
P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 1.000 None 0.953 0 8 1987 2020
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.740 None 1.000 0 9 2002 2019
Entrez Id: 5925
Gene Symbol: RB1
RB1
P06400 RB transcriptional corepressor 1 Nucleic acid binding 11 0.444 0.885 1.00 0.700 None 1.000 0 2 1987 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 29 0.452 0.808 1.00 0.150 None 0.800 0 1 2011 2018