Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885
CP P00450 ceruloplasmin Enzyme 4.2E-10 0.466 0.846
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
NUP62 P37198 nucleoporin 62 Transporter 0.95 0.470 0.885
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
YY1 P25490 YY1 transcription factor Transcription factor 0.99 0.481 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
ATXN3 P54252 ataxin 3 Enzyme 0.11 0.521 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808