Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ATXN3 P54252 ataxin 3 Enzyme 0.11 0.521 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CP P00450 ceruloplasmin Enzyme 4.2E-10 0.466 0.846
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
CWF19L1 Q69YN2 CWF19 like cell cycle control factor 1 1.4E-15 0.691 0.346
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769