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
LDLR P01130 low density lipoprotein receptor 9.8E-24 0.449 0.885 336 1434
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 552 1105
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 684 974
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 380 935
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
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 366 651
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 124 645
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731 296 642
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692 93 619
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 2494 527
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 216 504
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 260 410
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769 219 394
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 119 394
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 664 387
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 45 387
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
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769 227 372