Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
SNX14 Q9Y5W7 sorting nexin 14 Enzyme modulator 6.1E-17 0.659 0.423
UROC1 Q96N76 urocanate hydratase 1 2.1E-15 0.780 0.385
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
PLEKHG2 Q9H7P9 pleckstrin homology and RhoGEF domain containing G2 1.4E-09 0.705 0.423
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
LARP7 Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 9.3E-08 0.674 0.615
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
LINS1 Q8NG48 lines homolog 1 2.4E-07 0.691 0.231
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
L2HGDH Q9H9P8 L-2-hydroxyglutarate dehydrogenase Enzyme 4.2E-05 0.653 0.462
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ERLIN2 O94905 ER lipid raft associated 2 6.7E-04 0.647 0.500
AP4E1 Q9UPM8 adaptor related protein complex 4 subunit epsilon 1 Receptor 2.8E-03 0.656 0.385