Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
LMNA P02545 lamin A/C 1.00 0.384 0.885 46 196
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500 43 2
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 36 154
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 28 131
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 25 357
DES P17661 desmin 8.8E-03 0.460 0.846 24 47
TNNT2 P45379 troponin T2, cardiac type Cellular structure 2.0E-03 0.601 0.423 11 48
TPM1 P09493 tropomyosin 1 Cellular structure 1.0E-03 0.560 0.615 11 37
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538 11 19
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385 10 2
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769 9 39
KCNE1 P15382 potassium voltage-gated channel subfamily E regulatory subunit 1 Ion channel 3.4E-03 0.588 0.615 9 12
CEP85L Q5SZL2 centrosomal protein 85 like 4.5E-09 0.656 0.423 9 4
PLN P26678 phospholamban 0.45 0.595 0.577 9 4
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615 7 19
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846 6 58
DSG2 Q14126 desmoglein 2 Cell adhesion 2.8E-10 0.601 0.692 6 36
BAG3 O95817 BAG cochaperone 3 0.62 0.498 0.846 6 27