Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846 34
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 23
VHL P40337 von Hippel-Lindau tumor suppressor Enzyme 8.0E-02 0.443 0.846 22
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731 21
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808 21
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 20
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 20
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 20
RSPH4A Q5TD94 radial spoke head component 4A 7.6E-11 0.666 0.538 19
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 19
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 18
SLC5A6 Q9Y289 solute carrier family 5 member 6 Transporter 6.1E-03 0.674 0.577 18
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 17
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 17
LMNA P02545 lamin A/C 1.00 0.384 0.885 17
PAX6 P26367 paired box 6 1.00 0.450 0.769 17
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 16
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 15
ACVRL1 P37023 activin A receptor like type 1 Kinase 9.7E-04 0.493 0.769 14
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 14
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 14
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769 14
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 14
FLNA P21333 filamin A 1.00 0.419 0.846 14