Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 23
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 20
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615 13
TREX1 Q9NSU2 three prime repair exonuclease 1 0.58 0.517 0.808 13
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 11
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808 9
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846 9
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 8
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 7
CACNA1E Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 1.00 0.650 0.577 7
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769 7
PNPT1 Q8TCS8 polyribonucleotide nucleotidyltransferase 1 Enzyme 4.0E-04 0.653 0.462 7
SAMHD1 Q9Y3Z3 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 6.5E-13 0.547 0.769 7
TREM2 Q9NZC2 triggering receptor expressed on myeloid cells 2 3.3E-09 0.519 0.769 7
ATP13A2 Q9NQ11 ATPase cation transporting 13A2 9.0E-09 0.566 0.577 6
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654 6
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846 6
PRKN O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 6.9E-07 0.431 0.846 6
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 0.846 6
RNASEH2B Q5TBB1 ribonuclease H2 subunit B 3.3E-09 0.595 0.615 6
SERAC1 Q96JX3 serine active site containing 1 3.9E-06 0.686 0.385 6
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808 5
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731 5
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731 5