Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154
FCSK Q8N0W3 fucose kinase Kinase 1.0E-29 0.769 0.192
AP2M1 Q96CW1 adaptor related protein complex 2 subunit mu 1 Extracellular structure 1.00 0.751 0.231
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
BOLA3 Q53S33 bolA family member 3 0.15 0.760 0.231
UGP2 Q16851 UDP-glucose pyrophosphorylase 2 1.4E-08 0.711 0.308
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
SLC35A3 Q9Y2D2 solute carrier family 35 member A3 Transporter 2.6E-03 0.716 0.308
PTPN23 Q9H3S7 protein tyrosine phosphatase non-receptor type 23 3.1E-02 0.743 0.308
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308
GABRA2 P47869 gamma-aminobutyric acid type A receptor subunit alpha2 Ion channel 1.00 0.641 0.346
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
RNF13 O43567 ring finger protein 13 4.0E-04 0.722 0.346
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346
CNNM2 Q9H8M5 cyclin and CBS domain divalent metal cation transport mediator 2 1.00 0.641 0.346
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
PIGS Q96S52 phosphatidylinositol glycan anchor biosynthesis class S 1.8E-05 0.705 0.346
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SLC1A4 P43007 solute carrier family 1 member 4 Transporter 6.6E-02 0.700 0.385
NUP214 P35658 nucleoporin 214 Nucleic acid binding 5.5E-02 0.638 0.385
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
PACS2 Q86VP3 phosphofurin acidic cluster sorting protein 2 1.00 0.700 0.423