Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 Biomarker disease CTD_human Antitumor effects of a combined 5-aza-2'deoxycytidine and valproic acid treatment on rhabdomyosarcoma and medulloblastoma in Ptch mutant mice. 19155313 2009
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 Biomarker disease CTD_human To study the role of Ptc1 in cerebellar tumor development and to create a preclinical therapeutic platform, we have generated a conditional Ptc1 haploinsufficiency model of medulloblastoma by inactivating Ptc1 in Pax7-expressing cells of the cerebellum. 19213072 2009
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 Biomarker disease CTD_human When compared with Ptch1 heterozygous mutants, compound Ptch1/Hic1 heterozygotes display a fourfold increased incidence of medulloblastoma. 18347096 2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 CausalMutation disease CGI
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma. 25403219 2014
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease GENOMICS_ENGLAND Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma. 25403219 2014
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN Loss of Trp53 promotes medulloblastoma development but not skin tumorigenesis in Sufu heterozygous mutant mice. 21882258 2012
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN Loss of SUFU function in familial multiple meningioma. 22958902 2012
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. 19833601 2010
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801 2009
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease GENOMICS_ENGLAND We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801 2009
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 18285427 2008
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN Loss of suppressor-of-fused function promotes tumorigenesis. 17452975 2007
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway. 16459298 2006
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 GeneticVariation disease UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN Mutations in SUFU predispose to medulloblastoma. 12068298 2002
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 GeneticVariation disease UNIPROT In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin). 10666372 2000
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CLINGEN Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. 8681379 1996
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 GenomicAlterations disease CGI
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 Biomarker disease CTD_human
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 CausalMutation disease CGI
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 Biomarker disease CTD_human
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 CausalMutation disease CGI
Entrez Id: 324
Gene Symbol: APC
APC 		0.700 GeneticVariation disease UNIPROT APC mutations in sporadic medulloblastomas. 10666372 2000
Entrez Id: 324
Gene Symbol: APC
APC 		0.700 Biomarker disease CTD_human The molecular basis of Turcot's syndrome. 7661930 1995