Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
CDH1 P12830 cadherin 1 0.15 0.401 0.808 7
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 7
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731 7
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 7
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 7
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 6
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 6
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 6
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 4
EPCAM P16422 epithelial cell adhesion molecule 1.3E-07 0.451 0.885 2
MUTYH Q9UIF7 mutY DNA glycosylase Enzyme 1.3E-18 0.521 0.769 2
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808 2
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692 2
CHEK1 O14757 checkpoint kinase 1 Kinase 3.1E-08 0.492 0.808 1
GEN1 Q17RS7 GEN1 Holliday junction 5' flap endonuclease 3.7E-15 0.682 0.500 1
MCPH1 Q8NEM0 microcephalin 1 Nucleic acid binding 7.8E-30 0.540 0.846 1
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808 1
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 1
RAD50 Q92878 RAD50 double strand break repair protein 3.4E-27 0.556 0.808 1
RAD51D O75771 RAD51 paralog D 1.1E-09 0.674 0.385 1
RECQL P46063 RecQ like helicase Enzyme 1.5E-20 0.615 0.615 1
RINT1 Q6NUQ1 RAD50 interactor 1 5.3E-13 0.743 0.231 1
SLX4 Q8IY92 SLX4 structure-specific endonuclease subunit 1.6E-22 0.565 0.731 1
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731 1