Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
PEX26 Q7Z412 peroxisomal biogenesis factor 26 0.93 0.584 0.615
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808