Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN-AS1 TTN antisense RNA 1 0.599 0.577
FLG-AS1 FLG antisense RNA 1 0.700 0.538
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
EMC1-AS1 EMC1 antisense RNA 1 0.792 0.385
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
SRD5A3-AS1 SRD5A3 antisense RNA 1 0.931 0.077
NR2F1-AS1 NR2F1 antisense RNA 1 0.780 0.308
BDNF-AS BDNF antisense RNA 0.638 0.538
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
NEB P20929 nebulin 4.6E-41 0.608 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769