Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NDST1 P52848 N-deacetylase and N-sulfotransferase 1 1.00 0.608 0.692
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846
PAX8 Q06710 paired box 8 1.00 0.477 0.731
PGAP1 Q75T13 post-GPI attachment to proteins inositol deacylase 1 Transporter 3.2E-08 0.650 0.423
PIGC Q92535 phosphatidylinositol glycan anchor biosynthesis class C Enzyme 5.5E-03 0.691 0.346
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808
PRSS12 P56730 serine protease 12 Enzyme 8.4E-29 0.682 0.308
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RSRC1 Q96IZ7 arginine and serine rich coiled-coil 1 7.5E-05 0.650 0.462
RTTN Q86VV8 rotatin 9.0E-34 0.619 0.654
SARS1 P49591 seryl-tRNA synthetase 1 Enzyme 1.00 0.558 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
SLC45A1 Q9Y2W3 solute carrier family 45 member 1 Transporter 2.5E-05 0.674 0.269
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808