Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
ACSL6 Q9UKU0 acyl-CoA synthetase long chain family member 6 Enzyme 3.2E-03 0.686 0.500 2
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808 11
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 14
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 13
CEBPA P49715 CCAAT enhancer binding protein alpha Transcription factor 0.55 0.496 0.692 4
CTC1 Q2NKJ3 CST telomere replication complex component 1 1.6E-11 0.601 0.538 7
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 3
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 11
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731 3
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 13
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769 14
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 13
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885 11
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808 11
FANCF Q9NPI8 FA complementation group F 0.46 0.535 0.731 11
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769 13
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731 10
FANCL Q9NW38 FA complementation group L Enzyme 5.9E-23 0.551 0.731 10
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731 9
GATA2 P23769 GATA binding protein 2 0.98 0.496 0.654 5
IRF1 P10914 interferon regulatory factor 1 Transcription factor 0.99 0.468 0.769 3
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808 6
MAD2L2 Q9UI95 mitotic arrest deficient 2 like 2 8.2E-02 0.547 0.731 6
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 5