Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TRNP tRNA 0.792 0.423 4 2
DPM3 Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.23 0.839 0.308 4 2
TRNQ tRNA 0.590 0.731 3 3
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
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
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
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
TCAP O15273 titin-cap 0.19 0.682 0.538 6 11
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731 7 15
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808 5 16
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769 7 17
MYH2 Q9UKX2 myosin heavy chain 2 3.7E-23 0.619 0.731 2 21
MYHAS myosin heavy chain gene cluster antisense RNA 0.890 0.269 4 22
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692 25 24
EMD P50402 emerin 0.93 0.542 0.731 8 25
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769 8 34
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538 13 42
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731 44 43