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
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
EVC P57679 EvC ciliary complex subunit 1 3.5E-25 0.587 0.577