Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN-AS1 TTN antisense RNA 1 0.599 0.577
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
ETHE1 O95571 ETHE1 persulfide dioxygenase Enzyme 4.6E-06 0.686 0.346
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
NPC2 P61916 NPC intracellular cholesterol transporter 2 1.8E-03 0.612 0.769
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
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
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808