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
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
EVC P57679 EvC ciliary complex subunit 1 3.5E-25 0.587 0.577
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
TXNDC15 Q96J42 thioredoxin domain containing 15 9.6E-03 0.736 0.615
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
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
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808