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
MYHAS myosin heavy chain gene cluster antisense RNA 0.890 0.269 4 22
TRNP tRNA 0.792 0.423 4 2
TRNQ tRNA 0.590 0.731 3 3
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
MYH2 Q9UKX2 myosin heavy chain 2 3.7E-23 0.619 0.731 2 21
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
CLCN1 P35523 chloride voltage-gated channel 1 Ion channel 3.3E-20 0.641 0.423 23 67
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615 34 144
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577 18 171
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692 4 70
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
ACADVL P49748 acyl-CoA dehydrogenase very long chain Enzyme 4.2E-15 0.653 0.654 5 109
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692 25 24
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269 21 5
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692 23 51
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462 18 5
SFTPC P11686 surfactant protein C 7.5E-04 0.556 0.692 15 6
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731 7 15
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769 6 6
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808 5 16