Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MYH2 Q9UKX2 myosin heavy chain 2 3.7E-23 0.619 0.731 2 21
TRNQ tRNA 0.590 0.731 3 3
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692 4 70
CLTA P09496 clathrin light chain A Transporter 0.96 0.628 0.654 4 70
MYHAS myosin heavy chain gene cluster antisense RNA 0.890 0.269 4 22
TRNP tRNA 0.792 0.423 4 2
DPM3 Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.23 0.839 0.308 4 2
ACADVL P49748 acyl-CoA dehydrogenase very long chain Enzyme 4.2E-15 0.653 0.654 5 109
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808 5 16
TCAP O15273 titin-cap 0.19 0.682 0.538 6 11
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769 6 6
ASTN2 O75129 astrotactin 2 1.00 0.666 0.462 6 6
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769 7 17
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731 7 15
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
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538 13 42
SFTPC P11686 surfactant protein C 7.5E-04 0.556 0.692 15 6
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731 16 138
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
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269 21 5
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577 22 5
CLCN1 P35523 chloride voltage-gated channel 1 Ion channel 3.3E-20 0.641 0.423 23 67