Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731 44 43
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615 34 144
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692 25 24
CLCN1 P35523 chloride voltage-gated channel 1 Ion channel 3.3E-20 0.641 0.423 23 67
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692 23 51
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577 22 5
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269 21 5
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577 18 171
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462 18 5
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731 16 138
SFTPC P11686 surfactant protein C 7.5E-04 0.556 0.692 15 6
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538 13 42
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769 8 34
EMD P50402 emerin 0.93 0.542 0.731 8 25
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769 7 17