Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 6 1
DSG2-AS1 DSG2 antisense RNA 1 0.890 0.077 5 9
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
ALPK3 Q96L96 alpha kinase 3 Kinase 8.4E-25 0.792 0.462 3 7
PKP2 Q99959 plakophilin 2 Cellular structure 3.1E-18 0.606 0.538 10 91
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
TMEM43 Q9BTV4 transmembrane protein 43 1.2E-12 0.653 0.462 4 4
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 25 357
DSG2 Q14126 desmoglein 2 Cell adhesion 2.8E-10 0.601 0.692 6 36
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692 5 3
CEP85L Q5SZL2 centrosomal protein 85 like 4.5E-09 0.656 0.423 9 4
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692 19 17
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615 7 19
DSC2 Q02487 desmocollin 2 Cell adhesion 5.2E-08 0.610 0.538 5 20
CSRP3 P50461 cysteine and glycine rich protein 3 Cellular structure 1.6E-04 0.572 0.731 4 12
TPM1 P09493 tropomyosin 1 Cellular structure 1.0E-03 0.560 0.615 11 37
TNNT2 P45379 troponin T2, cardiac type Cellular structure 2.0E-03 0.601 0.423 11 48
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
CRYAB P02511 crystallin alpha B 2.2E-02 0.515 0.731 8 15
VCL P18206 vinculin 4.7E-02 0.575 0.654 4 10
MYL3 P08590 myosin light chain 3 Calcium-binding protein 8.8E-02 0.695 0.308 5 9
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769 9 39