Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
APP P05067 amyloid beta precursor protein Enzyme modulator 4.7E-02 0.422 0.846
ARHGAP31 Q2M1Z3 Rho GTPase activating protein 31 1.00 0.581 0.615
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARSD P51689 arylsulfatase D Enzyme 1.6E-03 0.535 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 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
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DGCR2 P98153 DiGeorge syndrome critical region gene 2 5.2E-06 0.623 0.731
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
ELN P15502 elastin 2.1E-14 0.415 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846