Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 CausalMutation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 CausalMutation disease CLINVAR 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 GeneticVariation disease CLINVAR 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: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 CausalMutation disease CLINVAR High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 22508808 2012
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 GeneticVariation disease CLINVAR High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 22508808 2012
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 CausalMutation disease CLINVAR Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. 21188540 2011
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 CausalMutation disease CLINVAR
Entrez Id: 6608
Gene Symbol: SMO
SMO 		0.690 CausalMutation disease CLINVAR Vismodegib. 22679179 2012
Entrez Id: 6608
Gene Symbol: SMO
SMO 		0.690 CausalMutation disease CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.630 CausalMutation disease CLINVAR
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		0.610 CausalMutation disease CLINVAR
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		0.500 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.200 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.200 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.120 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		0.110 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7 		0.110 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 10408
Gene Symbol: MYCNOS
MYCNOS 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 7486
Gene Symbol: WRN
WRN 		0.100 GeneticVariation disease CLINVAR