Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
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
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
SMN2 Q16637 survival of motor neuron 2, centromeric 0.10 0.459 0.769
SMN1 Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 1.6E-02 0.454 0.769