Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
CDH1 P12830 cadherin 1 0.11 0.432 0.759 7
ATM Q13315 ATM serine/threonine kinase kinase; nucleic acid binding; transferase 6.0E-46 0.401 0.862 5
BARD1 Q99728 BRCA1 associated RING domain 1 2.2E-24 0.624 0.379 5
CHEK2 O96017 checkpoint kinase 2 1.2E-23 0.494 0.621 5
NF2 P35240 neurofibromin 2 1.00 0.511 0.621 5
PALB2 Q86YC2 partner and localizer of BRCA2 7.3E-20 0.569 0.552 5
STK11 Q15831 serine/threonine kinase 11 0.99 0.467 0.655 5
BAP1 Q92560 BRCA1 associated protein 1 hydrolase; protease 0.99 0.488 0.586 4
CDH23 Q9H251 cadherin related 23 5.4E-06 0.577 0.552 4
COL11A2 P13942 collagen type XI alpha 2 chain 0.42 0.478 0.690 4
EGLN1 Q9GZT9 egl-9 family hypoxia inducible factor 1 0.98 0.594 0.552 4
EGLN2 Q96KS0 egl-9 family hypoxia inducible factor 2 0.74 0.624 0.586 4
EPAS1 Q99814 endothelial PAS domain protein 1 nucleic acid binding; transcription factor 0.50 0.509 0.586 4
FH P07954 fumarate hydratase lyase 9.2E-02 0.533 0.690 4
GDNF P39905 glial cell derived neurotrophic factor signaling molecule 0.20 0.463 0.759 4
KIF1B O60333 kinesin family member 1B cytoskeletal protein 1.00 0.548 0.586 4
KMT2D O14686 lysine methyltransferase 2D 1.00 0.520 0.724 4
MAX P61244 MYC associated factor X nucleic acid binding; transcription factor 0.85 0.604 0.586 4
MDH2 P40926 malate dehydrogenase 2 oxidoreductase 6.7E-03 0.627 0.483 4
MECP2 P51608 methyl-CpG binding protein 2 nucleic acid binding; transferase 0.78 0.463 0.862 4
MERTK Q12866 MER proto-oncogene, tyrosine kinase 2.7E-11 0.557 0.690 4
MET P08581 MET proto-oncogene, receptor tyrosine kinase 0.99 0.405 0.793 4
MITF O75030 melanogenesis associated transcription factor 1.00 0.526 0.690 4
MLH1 P40692 mutL homolog 1 nucleic acid binding 5.1E-05 0.424 0.759 4