Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
UROC1 Q96N76 urocanate hydratase 1 2.1E-15 0.780 0.385
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
SRGAP3 O43295 SLIT-ROBO Rho GTPase activating protein 3 Enzyme modulator 1.00 0.711 0.346
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
SNX14 Q9Y5W7 sorting nexin 14 Enzyme modulator 6.1E-17 0.659 0.423
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NDST1 P52848 N-deacetylase and N-sulfotransferase 1 1.00 0.608 0.692
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MCPH1 Q8NEM0 microcephalin 1 Nucleic acid binding 7.8E-30 0.540 0.846
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577