Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
PLAGL1 Q9UM63 PLAG1 like zinc finger 1 0.98 0.566 0.769
SALL4 Q9UJQ4 spalt like transcription factor 4 Transcription factor 1.00 0.489 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
PAG1 Q9NWQ8 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 1.8E-02 0.505 0.808
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
G6PC3 Q9BUM1 glucose-6-phosphatase catalytic subunit 3 4.7E-06 0.606 0.731
PITX2 Q99697 paired like homeodomain 2 0.98 0.489 0.808
TBX5 Q99593 T-box transcription factor 5 Transcription factor 1.00 0.528 0.769
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
GTF2H3 Q13889 general transcription factor IIH subunit 3 Nucleic acid binding 3.0E-08 0.656 0.615
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
FOXC1 Q12948 forkhead box C1 Transcription factor 0.95 0.483 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885