Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
SNHG14 small nucleolar RNA host gene 14 0.656 0.577 11 125
SRD5A3-AS1 SRD5A3 antisense RNA 1 0.931 0.077 4 4
SOX9-AS1 SOX9 antisense RNA 1 0.839 0.269 4 16
LINC02245 long intergenic non-protein coding RNA 2245 0.821 0.231 4 5
GNAS-AS1 GNAS antisense RNA 1 0.729 0.346 1 1
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692 9 128
PCNT O95613 pericentrin 4.0E-58 0.564 0.808 2 34
DUOX2 Q9NRD8 dual oxidase 2 Enzyme 4.5E-56 0.533 0.769 4 15
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769 16 147
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 27 294
NEB P20929 nebulin 4.6E-41 0.608 0.692 9 271
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 38 68
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 14 22
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692 10 83
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 8 68
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
DOCK6 Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 1.3E-26 0.610 0.577 4 12
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 68 2953
CEP63 Q96MT8 centrosomal protein 63 Cellular structure 6.2E-25 0.666 0.500 2 8
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654 7 242