Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MYLK2 Q9H1R3 myosin light chain kinase 2 Kinase 0.23 0.705 0.269 1 1
ALPK3 Q96L96 alpha kinase 3 Kinase 8.4E-25 0.792 0.462 3 7
UQCRFS1 P47985 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 0.19 0.558 0.654 3 3
TAZ Q16635 tafazzin Enzyme 0.73 0.477 0.808 4 24
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
TMEM43 Q9BTV4 transmembrane protein 43 1.2E-12 0.653 0.462 4 4
DPM3 Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.23 0.839 0.308 4 2
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
DSC2 Q02487 desmocollin 2 Cell adhesion 5.2E-08 0.610 0.538 5 20
RBM20 Q5T481 RNA binding motif protein 20 0.99 0.716 0.269 5 13
DSG2-AS1 DSG2 antisense RNA 1 0.890 0.077 5 9
MYL3 P08590 myosin light chain 3 Calcium-binding protein 8.8E-02 0.695 0.308 5 9
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692 5 3
DSG2 Q14126 desmoglein 2 Cell adhesion 2.8E-10 0.601 0.692 6 36
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 6 1
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
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
EMD P50402 emerin 0.93 0.542 0.731 8 25
CRYAB P02511 crystallin alpha B 2.2E-02 0.515 0.731 8 15
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769 9 39