Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIK3CG P48736 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Kinase 1.4E-06 0.320 0.885
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923
MAPK3 P27361 mitogen-activated protein kinase 3 Kinase 3.7E-02 0.379 0.885
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
KCNJ6 P48051 potassium inwardly rectifying channel subfamily J member 6 Ion channel 0.54 0.615 0.692
EDNRA P25101 endothelin receptor type A G-protein coupled receptor 0.99 0.426 0.885
OPN1LW P04000 opsin 1, long wave sensitive G-protein coupled receptor 0.98 0.497 0.808
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962
ARSD P51689 arylsulfatase D Enzyme 1.6E-03 0.535 0.808
PTGS2 P35354 prostaglandin-endoperoxide synthase 2 Enzyme 1.00 0.314 0.962
PCBP4 P57723 poly(rC) binding protein 4 Enzyme 2.4E-03 0.523 0.808
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
PDLIM1 O00151 PDZ and LIM domain 1 Cellular structure 1.5E-03 0.729 0.423
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885