Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538 11 19
ACTN2 P35609 actinin alpha 2 1.00 0.686 0.462 4 4
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385 10 2
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500 43 2
BAG3 O95817 BAG cochaperone 3 0.62 0.498 0.846 6 27
CEP85L Q5SZL2 centrosomal protein 85 like 4.5E-09 0.656 0.423 9 4
CSRP3 P50461 cysteine and glycine rich protein 3 Cellular structure 1.6E-04 0.572 0.731 4 12
DES P17661 desmin 8.8E-03 0.460 0.846 24 47
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
DSG2 Q14126 desmoglein 2 Cell adhesion 2.8E-10 0.601 0.692 6 36
DSG2-AS1 DSG2 antisense RNA 1 0.890 0.077 5 9
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 28 131
GCOM1 P0CAP1 P0CAP2 Q6EEV4 GRINL1A complex locus 1 2.4E-19 0.805 0.308 1 1
HAND2 P61296 heart and neural crest derivatives expressed 2 0.40 0.612 0.500 2 1
HAND2-AS1 HAND2 antisense RNA 1 0.663 0.462 2 1
KCNE1 P15382 potassium voltage-gated channel subfamily E regulatory subunit 1 Ion channel 3.4E-03 0.588 0.615 9 12
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731 5 42
LMNA P02545 lamin A/C 1.00 0.384 0.885 46 196
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 25 357
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615 7 19
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615 4 7
MYZAP P0CAP1 P0CAP2 Q6EEV4 myocardial zonula adherens protein 4.4E-17 0.769 0.308 1 1