Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731