Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
WDR37 Q9Y2I8 WD repeat domain 37 0.57 0.751 0.231 14
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615 13
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731 13
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 13
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
FLCN Q8NFG4 folliculin 0.79 0.537 0.885 13
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692 13
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 13
SLC4A1 P02730 solute carrier family 4 member 1 (Diego blood group) Transporter 0.85 0.522 0.731 13
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 13
TCN2 P20062 transcobalamin 2 1.0E-06 0.578 0.615 13
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 13
TREX1 Q9NSU2 three prime repair exonuclease 1 0.58 0.517 0.808 13
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 13
VAMP2 P63027 vesicle associated membrane protein 2 0.89 0.650 0.462 13
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 12
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 12
EIF4A3 P38919 eukaryotic translation initiation factor 4A3 1.00 0.608 0.500 12
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 12
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 12
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 12
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 12