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
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
EVC P57679 EvC ciliary complex subunit 1 3.5E-25 0.587 0.577
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
TXNDC15 Q96J42 thioredoxin domain containing 15 9.6E-03 0.736 0.615
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769