Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN-AS1 TTN antisense RNA 1 0.599 0.577
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
ETHE1 O95571 ETHE1 persulfide dioxygenase Enzyme 4.6E-06 0.686 0.346
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231
MECR Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 2.2E-05 0.736 0.385
NPC2 P61916 NPC intracellular cholesterol transporter 2 1.8E-03 0.612 0.769
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
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
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
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500