Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
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
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
EVC P57679 EvC ciliary complex subunit 1 3.5E-25 0.587 0.577
CRMP1 Q14194 collapsin response mediator protein 1 Enzyme 0.99 0.525 0.808