Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
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
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
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
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731 21 180
FLNC Q14315 filamin C 1.00 0.568 0.615 18 52
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
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769 9 39
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
PRKAG2 Q9UGJ0 protein kinase AMP-activated non-catalytic subunit gamma 2 Enzyme modulator 1.00 0.582 0.654 7 16
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731 6 21
TCAP O15273 titin-cap 0.19 0.682 0.538 6 11
TRNI tRNA 0.743 0.385 6 6
RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough 0.36 0.861 0.154 5 143
GLA P06280 galactosidase alpha 1.00 0.537 0.769 5 140
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731 5 42
MYL3 P08590 myosin light chain 3 Calcium-binding protein 8.8E-02 0.695 0.308 5 9
JPH2 Q9BR39 junctophilin 2 4.5E-05 0.736 0.154 2 3
TRNG tRNA 1.000 0.077 2 2