Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
---|---|---|---|---|---|---|---|---|
CDKN2A | P42771 Q8N726 | cyclin dependent kinase inhibitor 2A | 0.39 | 0.300 | 0.885 | 13 | 33 | |
COL2A1 | P02458 | collagen type II alpha 1 chain | 1.00 | 0.444 | 0.846 | 13 | 28 | |
CDH1 | P12830 | cadherin 1 | 0.15 | 0.401 | 0.808 | 10 | 8 | |
LMNA | P02545 | lamin A/C | 1.00 | 0.384 | 0.885 | 9 | 102 | |
LRP5 | O75197 | LDL receptor related protein 5 | 0.51 | 0.485 | 0.846 | 8 | 54 | |
CTNNB1 | P35222 | catenin beta 1 | 1.00 | 0.303 | 0.885 | 7 | 13 | |
FLNA | P21333 | filamin A | 1.00 | 0.419 | 0.846 | 7 | 21 | |
MPZ | P25189 | myelin protein zero | 0.27 | 0.503 | 0.846 | 7 | 42 | |
COL1A1 | P02452 | collagen type I alpha 1 chain | 1.00 | 0.430 | 0.808 | 6 | 100 | |
MYH7 | P12883 | myosin heavy chain 7 | 4.2E-16 | 0.516 | 0.692 | 6 | 132 | |
PAX6 | P26367 | paired box 6 | 1.00 | 0.450 | 0.769 | 6 | 12 | |
SETBP1 | Q9Y6X0 | SET binding protein 1 | 1.00 | 0.503 | 0.808 | 6 | 7 | |
COL4A1 | P02462 | collagen type IV alpha 1 chain | 1.00 | 0.484 | 0.731 | 5 | 21 | |
DMD | P11532 | dystrophin | 1.00 | 0.423 | 0.923 | 5 | 1 | |
ERCC6 | P0DP91 Q03468 | ERCC excision repair 6, chromatin remodeling factor | 5.2E-22 | 0.507 | 0.808 | 5 | 7 | |
FKTN | O75072 | fukutin | 8.7E-07 | 0.511 | 0.692 | 5 | 8 | |
FLNB | O75369 | filamin B | 6.1E-10 | 0.458 | 0.923 | 5 | 18 | |
GATA4 | P43694 | GATA binding protein 4 | 0.49 | 0.458 | 0.846 | 5 | 16 | |
GATA6 | Q92908 | GATA binding protein 6 | 1.00 | 0.478 | 0.808 | 5 | 8 | |
GBA | P04062 | glucosylceramidase beta | 1.4E-06 | 0.500 | 0.808 | 5 | 110 | |
HOXD13 | P35453 | homeobox D13 | 8.6E-03 | 0.483 | 0.808 | 5 | 6 | |
KRT5 | P13647 | keratin 5 | 0.64 | 0.512 | 0.731 | 5 | 43 | |
TRRAP | Q9Y4A5 | transformation/transcription domain associated protein | 1.00 | 0.572 | 0.692 | 5 | 5 | |
TMEM67 | Q5HYA8 | transmembrane protein 67 | 2.1E-24 | 0.512 | 0.769 | 5 | 36 |