Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
POTEF A5A3E0 POTE ankyrin domain family member F 5.5E-06 0.481 0.885
PDLIM1 O00151 PDZ and LIM domain 1 Cellular structure 1.5E-03 0.729 0.423
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
TBX3 O15119 T-box transcription factor 3 Transcription factor 0.99 0.525 0.769
MID1 O15344 midline 1 0.98 0.621 0.654
FGF10 O15520 fibroblast growth factor 10 Signaling 0.94 0.530 0.692
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
OPN1LW P04000 opsin 1, long wave sensitive G-protein coupled receptor 0.98 0.497 0.808
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
EIF4E P06730 eukaryotic translation initiation factor 4E Nucleic acid binding 0.94 0.448 0.846
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
NR2F1 P10589 nuclear receptor subfamily 2 group F member 1 Nuclear receptor 0.99 0.656 0.654
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
ELN P15502 elastin 2.1E-14 0.415 0.885
VEGFA P15692 vascular endothelial growth factor A Signaling 2.4E-05 0.266 0.923
ATP2A2 P16615 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Transporter 1.00 0.529 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808