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: 5925
Gene Symbol: RB1
RB1 		P06400 RB transcriptional corepressor 1 Nucleic acid binding 11 0.444 0.885 1.00 0.720 None 1.000 1 4 2012 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.700 None 0.960 1 32 1990 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.500 None 0.923 1 2 1998 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 0.200 None 1.000 1 5 2002 2018
Entrez Id: 567
Gene Symbol: B2M
B2M 		P61769 beta-2-microglobulin Immune response 12 0.447 0.846 0.56 0.100 None 1.000 1 3 2016 2016