Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
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
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
KIDINS220 Q9ULH0 kinase D interacting substrate 220 7.4E-02 0.534 0.769
FARSB Q9NSD9 phenylalanyl-tRNA synthetase subunit beta Enzyme 3.3E-03 0.682 0.500
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731