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
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 20
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 17
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 14
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 13
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 13
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769 13
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 12
CDK8 P49336 cyclin dependent kinase 8 Kinase 0.41 0.597 0.654 11
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 11
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385 11
GJB3 O75712 gap junction protein beta 3 Cell-cell junction 2.2E-03 0.621 0.462 10
TRAPPC4 Q9Y296 trafficking protein particle complex 4 Transporter 4.1E-06 0.805 0.308 10
PITX2 Q99697 paired like homeodomain 2 0.98 0.489 0.808 9
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846 9
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 8
FOXC1 Q12948 forkhead box C1 Transcription factor 0.95 0.483 0.846 8
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 8
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 7
PNPT1 Q8TCS8 polyribonucleotide nucleotidyltransferase 1 Enzyme 4.0E-04 0.653 0.462 7
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885 7
STAG2 Q8N3U4 stromal antigen 2 Nucleic acid binding 1.00 0.568 0.731 7
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654 6
DSPP Q9NZW4 dentin sialophosphoprotein 1.1E-07 0.556 0.769 6