Disease: Severe intellectual disability
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
ACAT1 P24752 acetyl-CoA acetyltransferase 1 Enzyme 9.9E-08 0.538 0.692
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ADA2 Q9NZK5 adenosine deaminase 2 Enzyme 8.1E-08 0.545 0.846
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
COX15 Q7KZN9 cytochrome c oxidase assembly homolog COX15 1.1E-13 0.638 0.538
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
CTNNA2 P26232 catenin alpha 2 Cellular structure 0.43 0.663 0.500
CTSD P07339 cathepsin D Enzyme 9.2E-04 0.478 0.846
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DBT P11182 dihydrolipoamide branched chain transacylase E2 Enzyme 1.0E-05 0.638 0.462
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
DCX O43602 doublecortin 0.30 0.511 0.769
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692