Disease: Pervasive Development Disorder
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
SYN1 P17600 synapsin I Cellular structure 0.99 0.597 0.462
SMS P52788 spermine synthase 0.97 0.491 0.846
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
SLC6A4 P31645 solute carrier family 6 member 4 Transporter 0.25 0.429 0.808
SIRT1 Q96EB6 sirtuin 1 Epigenetic regulator 8.7E-02 0.378 0.885
SHANK1 Q9Y566 SH3 and multiple ankyrin repeat domains 1 1.00 0.678 0.385
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
RSS Russell Silver syndrome 0.578 0.692
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962
PVALB P20472 parvalbumin Calcium-binding protein 8.7E-02 0.547 0.692
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PIK3CG P48736 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Kinase 1.4E-06 0.320 0.885
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885
PIK3CB P42338 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta Kinase 1.00 0.322 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
NUFIP2 Q7Z417 nuclear FMR1 interacting protein 2 1.00 0.641 0.577
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NRG1 Q02297 neuregulin 1 Signaling 1.00 0.464 0.885
NOS1 P29475 nitric oxide synthase 1 1.00 0.408 0.885
NCS1 P62166 neuronal calcium sensor 1 0.66 0.656 0.615
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MAOA P21397 monoamine oxidase A 1.00 0.465 0.769
HTT P42858 huntingtin 1.00 0.548 0.654