Source: BEFREE

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 2245 232
LDLR P01130 low density lipoprotein receptor 9.8E-24 0.449 0.885 282 187
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 576 169
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885 1308 143
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 131 142
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885 365 133
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 517 111
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 0.846 232 109
LMNA P02545 lamin A/C 1.00 0.384 0.885 401 107
APP P05067 amyloid beta precursor protein Enzyme modulator 4.7E-02 0.422 0.846 384 105
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769 156 105
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962 972 97
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 446 90
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 459 89
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885 432 88
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 345 85
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 453 81
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731 141 76
MAPT P10636 microtubule associated protein tau 6.0E-03 0.446 0.923 256 74
CDKN2B-AS1 CDKN2B antisense RNA 1 0.491 0.769 161 72
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923 979 70
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885 1214 67
VDR P11473 vitamin D receptor Nuclear receptor 1.7E-05 0.352 0.885 757 66
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 563 65