Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346
ETHE1 O95571 ETHE1 persulfide dioxygenase Enzyme 4.6E-06 0.686 0.346
MECR Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 2.2E-05 0.736 0.385
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
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
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
TTN-AS1 TTN antisense RNA 1 0.599 0.577
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
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
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
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
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769