Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.900 None 0.985 0 1 1997 2020
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.800 definitive 0.950 3 14 1996 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.800 None 0.979 2 9 1998 2020
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.690 None 1.000 2 1 2000 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.630 strong 1.000 0 22 2003 2018
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
patched 2 0.563 0.692 3.4E-16
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.610 moderate 1.000 0 1 1999 1999
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.500 None 0.971 1 1 1989 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.200 None 0.974 1 8 1991 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.200 None 1.000 1 7 2004 2019
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.120 None 1.000 1 2 2012 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.110 None 1.000 1 2 2016 2018
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7
F-box and WD repeat domain containing 7 0.465 0.808 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.110 None 1.000 1 2 2016 2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2
splicing factor 3b subunit 2 0.780 0.308 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.100 None 1.000 1 5 2016 2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 10408
Gene Symbol: MYCNOS
MYCNOS
MYCN opposite strand 0.700 0.462
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.100 None 0 1