Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808 6
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 14
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846 11
RUNX1 Q01196 RUNX family transcription factor 1 Transcription factor 0.65 0.425 0.808 3
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 3
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846 6
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769 14
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 11
IRF1 P10914 interferon regulatory factor 1 Transcription factor 0.99 0.468 0.769 3
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731 3
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885 11
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 12
GATA2 P23769 GATA binding protein 2 0.98 0.496 0.654 5
CEBPA P49715 CCAAT enhancer binding protein alpha Transcription factor 0.55 0.496 0.692 4
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 13
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 5
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 13
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 13
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731 6
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692 11
FANCF Q9NPI8 FA complementation group F 0.46 0.535 0.731 11
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808 11
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731 10
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731 9