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
TTN-AS1 TTN antisense RNA 1 0.599 0.577 112 626
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692 93 619
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 58 612
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 287 533
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 2494 527
ULK4 Q96C45 unc-51 like kinase 4 Kinase 4.4E-38 0.722 0.385 32 515
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 216 504
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 100 418
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 260 410
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808 301 402
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769 219 394