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
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
DES P17661 desmin 8.8E-03 0.460 0.846 24 47
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
TAZ Q16635 tafazzin Enzyme 0.73 0.477 0.808 4 24
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846 6 58
BAG3 O95817 BAG cochaperone 3 0.62 0.498 0.846 6 27
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 36 154
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 28 131
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769 9 39
PPP1R13L Q8WUF5 protein phosphatase 1 regulatory subunit 13 like 3.2E-02 0.539 0.692 4 1
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731 5 42
SLC12A2 P55011 solute carrier family 12 member 2 Transporter 0.96 0.552 0.808 3 1
TPM1 P09493 tropomyosin 1 Cellular structure 1.0E-03 0.560 0.615 11 37
CSRP3 P50461 cysteine and glycine rich protein 3 Cellular structure 1.6E-04 0.572 0.731 4 12
VCL P18206 vinculin 4.7E-02 0.575 0.654 4 10
KCNE1 P15382 potassium voltage-gated channel subfamily E regulatory subunit 1 Ion channel 3.4E-03 0.588 0.615 9 12
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 25 357
PLN P26678 phospholamban 0.45 0.595 0.577 9 4
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
TNNT2 P45379 troponin T2, cardiac type Cellular structure 2.0E-03 0.601 0.423 11 48
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615 7 19