Disease: Pervasive Development Disorder
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB6 Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 8.6E-19 0.431 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AFF2 P51816 AF4/FMR2 family member 2 Transcription factor 1.00 0.636 0.538
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
APP P05067 amyloid beta precursor protein Enzyme modulator 4.7E-02 0.422 0.846
ARHGEF9 O43307 Cdc42 guanine nucleotide exchange factor 9 Enzyme modulator 1.00 0.691 0.385
ARSD P51689 arylsulfatase D Enzyme 1.6E-03 0.535 0.808
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
EIF4E P06730 eukaryotic translation initiation factor 4E Nucleic acid binding 0.94 0.448 0.846
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FMR1-AS1 FMR1 antisense RNA 1 0.839 0.231
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
HTR2A P28223 5-hydroxytryptamine receptor 2A G-protein coupled receptor 0.51 0.473 0.846
HTT P42858 huntingtin 1.00 0.548 0.654
MAOA P21397 monoamine oxidase A 1.00 0.465 0.769
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NCS1 P62166 neuronal calcium sensor 1 0.66 0.656 0.615
NOS1 P29475 nitric oxide synthase 1 1.00 0.408 0.885
NRG1 Q02297 neuregulin 1 Signaling 1.00 0.464 0.885
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NUFIP2 Q7Z417 nuclear FMR1 interacting protein 2 1.00 0.641 0.577
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923