Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
FLG-AS1 FLG antisense RNA 1 0.700 0.538
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
SNHG14 small nucleolar RNA host gene 14 0.656 0.577
ST7-AS2 ST7 antisense RNA 2 0.931 0.038
KIF2A O00139 kinesin family member 2A Cellular structure 1.00 0.590 0.731
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
SYN3 O14994 synapsin III Cellular structure 1.9E-03 0.686 0.462
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
EXTL3 O43909 exostosin like glycosyltransferase 3 2.5E-05 0.599 0.731
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846