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: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.800 strong 0.948 0 3 1994 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		P38398 BRCA1 DNA repair associated Enzyme 22 0.367 0.923 9.2E-29 0.800 strong 0.965 0 6 1992 2020
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 15 0.507 0.731 6.2E-17 0.700 None 0.909 0 2 2006 2020
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 0.630 strong 1.000 0 1 2014 2019
Entrez Id: 324
Gene Symbol: APC
APC 		P25054 APC regulator of WNT signaling pathway 33 0.373 0.962 1.00 0.360 None 1.000 0 1 1994 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.200 None 0.769 0 1 2003 2019
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		Q86YC2 partner and localizer of BRCA2 48 0.485 0.769 3.0E-19 0.200 None 0.706 0 2 2008 2019
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 44 0.374 0.885 5.6E-47 0.190 None 0.889 0 1 1999 2019
Entrez Id: 4683
Gene Symbol: NBN
NBN 		O60934 nibrin Nucleic acid binding 15 0.467 0.808 2.2E-16 0.150 None 0.600 0 1 2007 2019
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13 		Q92826 homeobox B13 6 0.573 0.462 3.7E-08 0.110 None 1.000 0 1 2007 2007
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		Q9UIF7 mutY DNA glycosylase Enzyme 16 0.521 0.769 1.3E-18 0.100 None 0 1