Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
DUOX2 Q9NRD8 dual oxidase 2 Enzyme 4.5E-56 0.533 0.769 20
MCTP2 Q6DN12 multiple C2 and transmembrane domain containing 2 6.0E-52 0.623 0.577 60
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769 30
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 95
CD109 Q6YHK3 CD109 molecule 2.3E-44 0.595 0.654 13
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808 123
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 38
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731 122
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692 93
HEPHL1 Q6MZM0 hephaestin like 1 1.1E-34 0.792 0.231 17
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 162
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808 38
TUBGCP6 Q96RT7 tubulin gamma complex associated protein 6 Cellular structure 2.6E-31 0.695 0.308 39
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769 127
AP5Z1 O43299 adaptor related protein complex 5 subunit zeta 1 7.3E-31 0.700 0.346 25
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885 121
DHTKD1 Q96HY7 dehydrogenase E1 and transketolase domain containing 1 2.8E-30 0.711 0.385 10
MCPH1 Q8NEM0 microcephalin 1 Nucleic acid binding 7.8E-30 0.540 0.846 23
FCSK Q8N0W3 fucose kinase Kinase 1.0E-29 0.769 0.192 18
KIAA0556 O60303 KIAA0556 1.2E-29 0.644 0.538 53
TTC37 Q6PGP7 tetratricopeptide repeat domain 37 1.7E-29 0.626 0.654 85
NPHP4 O75161 nephrocystin 4 1.7E-29 0.674 0.423 27
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769 146
PRSS12 P56730 serine protease 12 Enzyme 8.4E-29 0.682 0.308 46