Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
LMNA P02545 lamin A/C 1.00 0.384 0.885 46 196
TTR P02766 transthyretin Transporter 0.52 0.423 0.885 15 45
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885 10 60
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 28 131
TAZ Q16635 tafazzin Enzyme 0.73 0.477 0.808 4 24
TNNI3 P19429 troponin I3, cardiac type Cellular structure 9.6E-02 0.520 0.769 9 39
GLA P06280 galactosidase alpha 1.00 0.537 0.769 5 140
CRYAB P02511 crystallin alpha B 2.2E-02 0.515 0.731 8 15
EMD P50402 emerin 0.93 0.542 0.731 8 25
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731 5 42
CSRP3 P50461 cysteine and glycine rich protein 3 Cellular structure 1.6E-04 0.572 0.731 4 12
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692 19 17
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
PRKAG2 Q9UGJ0 protein kinase AMP-activated non-catalytic subunit gamma 2 Enzyme modulator 1.00 0.582 0.654 7 16
VCL P18206 vinculin 4.7E-02 0.575 0.654 4 10
UQCRFS1 P47985 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 0.19 0.558 0.654 3 3
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
FLNC Q14315 filamin C 1.00 0.568 0.615 18 52
RYR2 Q92736 ryanodine receptor 2 Ion channel 1.00 0.539 0.615 11 60