Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 116 0.398 0.885 1.00 0.900 None 0.985 0 1 1997 2020
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		Q9UMX1 SUFU negative regulator of hedgehog signaling 6 0.493 0.769 1.00 0.800 definitive 0.950 3 14 1996 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.800 None 0.979 2 9 1998 2020
Entrez Id: 6608
Gene Symbol: SMO
SMO 		Q99835 smoothened, frizzled class receptor G-protein coupled receptor 17 0.489 0.731 4.3E-07 0.690 None 1.000 2 1 2000 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.630 strong 1.000 0 22 2003 2018
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		Q9Y6C5 patched 2 3 0.563 0.692 3.4E-16 0.610 moderate 1.000 0 1 1999 1999
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 18 0.454 0.808 0.89 0.500 None 0.971 1 1 1989 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.200 None 0.974 1 8 1991 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 0.200 None 1.000 1 7 2004 2019
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 40 0.428 0.808 1.00 0.120 None 1.000 1 2 2012 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		O75874 isocitrate dehydrogenase (NADP(+)) 1 18 0.424 0.808 2.6E-12 0.110 None 1.000 1 2 2016 2018
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7 		Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 18 0.465 0.808 1.00 0.110 None 1.000 1 2 2016 2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2 		Q13435 splicing factor 3b subunit 2 9 0.780 0.308 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300 		Q09472 E1A binding protein p300 28 0.459 0.846 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		P11362 fibroblast growth factor receptor 1 Kinase 27 0.362 0.885 1.00 0.100 None 1.000 1 5 2016 2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		P01111 NRAS proto-oncogene, GTPase Enzyme modulator 37 0.390 0.808 0.49 0.100 None 1.000 1 2 2016 2016
Entrez Id: 10408
Gene Symbol: MYCNOS
MYCNOS 		P40205 MYCN opposite strand 9 0.700 0.462 0.100 None 1.000 1 1 2016 2016
Entrez Id: 7486
Gene Symbol: WRN
WRN 		Q14191 WRN RecQ like helicase Enzyme 8 0.524 0.808 2.6E-34 0.100 None 0 1