Source: ALL

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 656 3066
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 747 2600
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 684 974
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 490 777
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 526 757
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 703 681
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885 476 673
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731 296 642
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 2494 527
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 260 410
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 664 387
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731 189 386
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 1349 384
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769 281 380
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769 227 372
DMD P11532 dystrophin 1.00 0.423 0.923 484 345
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 487 337
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808 410 317
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 706 308
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 244 282
UGT1A7 Q9HAW7 UDP glucuronosyltransferase family 1 member A7 8.7E-14 0.550 0.692 125 278
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 320 266
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 297 261
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 419 247