Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 0.577
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
LMNA P02545 lamin A/C 1.00 0.384 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654
DMD P11532 dystrophin 1.00 0.423 0.923
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385
DES P17661 desmin 8.8E-03 0.460 0.846
TNNT2 P45379 troponin T2, cardiac type Cellular structure 2.0E-03 0.601 0.423
TPM1 P09493 tropomyosin 1 Cellular structure 1.0E-03 0.560 0.615
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769
KCNE1 P15382 potassium voltage-gated channel subfamily E regulatory subunit 1 Ion channel 3.4E-03 0.588 0.615
CEP85L Q5SZL2 centrosomal protein 85 like 4.5E-09 0.656 0.423
PLN P26678 phospholamban 0.45 0.595 0.577
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
DSG2 Q14126 desmoglein 2 Cell adhesion 2.8E-10 0.601 0.692
BAG3 O95817 BAG cochaperone 3 0.62 0.498 0.846
TCAP O15273 titin-cap 0.19 0.682 0.538