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: 2146
Gene Symbol: EZH2
EZH2 		Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 6 0.376 0.885 1.00 0.500 None 1.000 2 3 2003 2020
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 0 1 1998 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.400 None 0.955 0 1 1986 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 33 0.484 0.808 4.5E-27 0.140 None 1.000 0 3 1995 1999
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.130 None 1.000 0 1 2001 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.120 None 1.000 0 1 2010 2014