Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
FLG-AS1 FLG antisense RNA 1 0.700 0.538
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
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
PKP2 Q99959 plakophilin 2 Cellular structure 3.1E-18 0.606 0.538
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
COL4A2 P08572 collagen type IV alpha 2 chain 3.6E-15 0.563 0.654
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
ALDH1A3 P47895 aldehyde dehydrogenase 1 family member A3 Enzyme 0.14 0.578 0.654
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692
FOXN1 O15353 forkhead box N1 0.94 0.615 0.654
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500