Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MEIS2 O14770 Meis homeobox 2 Enzyme 1.00 0.601 0.808