Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
UVRAG Q9P2Y5 UV radiation resistance associated 0.99 0.436 0.769
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
SPECC1L Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 0.86 0.593 0.654
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
SHH Q15465 sonic hedgehog signaling molecule 0.98 0.461 0.846
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SALL4 Q9UJQ4 spalt like transcription factor 4 Transcription factor 1.00 0.489 0.769
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PITX2 Q99697 paired like homeodomain 2 0.98 0.489 0.808
PAX6 P26367 paired box 6 1.00 0.450 0.769
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MASP1 P48740 mannan binding lectin serine peptidase 1 Enzyme 1.2E-11 0.565 0.885