Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FAM111A Q96PZ2 family with sequence similarity 111 member A 2.2E-03 0.663 0.462
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
GSPT2 Q8IYD1 G1 to S phase transition 2 Enzyme 0.98 0.821 0.154
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
GRIK4 Q16099 glutamate ionotropic receptor kainate type subunit 4 Ion channel 0.11 0.678 0.423
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423