Source: CLINVAR

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 68 2953
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 22 2439
LDLR P01130 low density lipoprotein receptor 9.8E-24 0.449 0.885 18 1355
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 20 682
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 15 653
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 22 616
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 33 582
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731 18 577
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885 27 569
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692 18 561
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808 11 393
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 39 371
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 25 357
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462 32 342
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336