Disease: Severe intellectual disability
Source: INFERRED ×
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
ACAT1 P24752 acetyl-CoA acetyltransferase 1 Enzyme 9.9E-08 0.538 0.692
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
AHSG P02765 alpha 2-HS glycoprotein Enzyme modulator 3.2E-10 0.506 0.846
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
COG5 Q9UP83 component of oligomeric golgi complex 5 9.8E-20 0.656 0.538
COX15 Q7KZN9 cytochrome c oxidase assembly homolog COX15 1.1E-13 0.638 0.538
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885