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
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 0.577
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538