Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ACADVL P49748 acyl-CoA dehydrogenase very long chain Enzyme 4.2E-15 0.653 0.654 5 109
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538 13 42
ASTN2 O75129 astrotactin 2 1.00 0.666 0.462 6 6
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615 34 144
CLCN1 P35523 chloride voltage-gated channel 1 Ion channel 3.3E-20 0.641 0.423 23 67
CLTA P09496 clathrin light chain A Transporter 0.96 0.628 0.654 4 70
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692 23 51
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769 8 34
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
DPM3 Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.23 0.839 0.308 4 2
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769 7 17
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
EMD P50402 emerin 0.93 0.542 0.731 8 25
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692 4 70
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577 18 171
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577 22 5
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462 18 5
MYH2 Q9UKX2 myosin heavy chain 2 3.7E-23 0.619 0.731 2 21
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
MYHAS myosin heavy chain gene cluster antisense RNA 0.890 0.269 4 22
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731 16 138