Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
AHCY P23526 adenosylhomocysteinase Enzyme 3.6E-02 0.582 0.692
ANK1 P16157 ankyrin 1 1.00 0.540 0.885
AP1S1 P61966 adaptor related protein complex 1 subunit sigma 1 Transporter 1.0E-01 0.743 0.308
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654
CAMKMT Q7Z624 calmodulin-lysine N-methyltransferase 1.4E-15 0.510 0.808
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
CLP1 Q92989 cleavage factor polyribonucleotide kinase subunit 1 Nucleic acid binding 0.20 0.700 0.385
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
CYB5R3 P00387 cytochrome b5 reductase 3 1.9E-04 0.638 0.654
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731