Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808
SMO Q99835 smoothened, frizzled class receptor G-protein coupled receptor 4.3E-07 0.489 0.731
MYCNOS P40205 MYCN opposite strand 0.700 0.462
SF3B2 Q13435 splicing factor 3b subunit 2 1.00 0.780 0.308
WRN Q14191 WRN RecQ like helicase Enzyme 2.6E-34 0.524 0.808
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
PTCH2 Q9Y6C5 patched 2 3.4E-16 0.563 0.692