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
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
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
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308