Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 14
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769 14
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 13
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 13
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 13
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769 13
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 12
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808 11
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 11
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
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692 11
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846 11
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
SLX4 Q8IY92 SLX4 structure-specific endonuclease subunit 1.6E-22 0.565 0.731 9
CTC1 Q2NKJ3 CST telomere replication complex component 1 1.6E-11 0.601 0.538 7
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
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846 6
SBDS Q9Y3A5 SBDS ribosome maturation factor Enzyme 6.2E-05 0.601 0.692 6
UBE2T Q9NPD8 ubiquitin conjugating enzyme E2 T 1.1E-05 0.550 0.731 6