Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
NPHP3 Q7Z494 nephrocystin 3 9.8E-16 0.597 0.654 12
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 12
PEX26 Q7Z412 peroxisomal biogenesis factor 26 0.93 0.584 0.615 12
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 12
TSHR P16473 thyroid stimulating hormone receptor G-protein coupled receptor 3.0E-15 0.486 0.808 12
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423 12
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 11
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808 11
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
COL4A3 Q01955 collagen type IV alpha 3 chain 1.1E-12 0.552 0.692 11
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 11
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885 11
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808 11
FANCF Q9NPI8 FA complementation group F 0.46 0.535 0.731 11
HK1 P19367 hexokinase 1 Kinase 0.91 0.542 0.731 11
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 11
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385 11
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 11
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 11
PIGB Q92521 phosphatidylinositol glycan anchor biosynthesis class B Enzyme 3.9E-11 0.839 0.038 11
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 11
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692 11
RARS1 P54136 arginyl-tRNA synthetase 1 3.3E-08 0.604 0.538 11