Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
AHR P35869 aryl hydrocarbon receptor Transcription factor 1.00 0.410 0.923
ARSD P51689 arylsulfatase D Enzyme 1.6E-03 0.535 0.808
ATP2A2 P16615 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Transporter 1.00 0.529 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DGCR2 P98153 DiGeorge syndrome critical region gene 2 5.2E-06 0.623 0.731
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
EDNRA P25101 endothelin receptor type A G-protein coupled receptor 0.99 0.426 0.885
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
EIF4E P06730 eukaryotic translation initiation factor 4E Nucleic acid binding 0.94 0.448 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
FGF10 O15520 fibroblast growth factor 10 Signaling 0.94 0.530 0.692
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
FOXC1 Q12948 forkhead box C1 Transcription factor 0.95 0.483 0.846
G6PC3 Q9BUM1 glucose-6-phosphatase catalytic subunit 3 4.7E-06 0.606 0.731
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GTF2H3 Q13889 general transcription factor IIH subunit 3 Nucleic acid binding 3.0E-08 0.656 0.615
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885