Disease: Intellectual Disability
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNN tRNA 0.682 0.577
TRNS1 tRNA 0.555 0.808
HYMAI hydatidiform mole associated and imprinted 0.670 0.538
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
TG P01266 thyroglobulin Enzyme modulator 2.9E-59 0.480 0.808
PCNT O95613 pericentrin 4.0E-58 0.564 0.808
DUOX2 Q9NRD8 dual oxidase 2 Enzyme 4.5E-56 0.533 0.769
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
TUBGCP6 Q96RT7 tubulin gamma complex associated protein 6 Cellular structure 2.6E-31 0.695 0.308
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
AP5Z1 O43299 adaptor related protein complex 5 subunit zeta 1 7.3E-31 0.700 0.346
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
MCPH1 Q8NEM0 microcephalin 1 Nucleic acid binding 7.8E-30 0.540 0.846
KIAA0556 O60303 KIAA0556 1.2E-29 0.644 0.538
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
PRSS12 P56730 serine protease 12 Enzyme 8.4E-29 0.682 0.308