Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.900 CausalMutation CLINVAR

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 CausalMutation 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
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 GeneticVariation 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
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 CausalMutation 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
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 GeneticVariation 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
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 CausalMutation 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
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 CausalMutation CLINVAR

Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 CausalMutation CLINVAR Vismodegib. 22679179

2012
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 CausalMutation CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788

2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 CausalMutation CLINVAR

Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.610 CausalMutation CLINVAR

Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.500 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.200 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.200 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.120 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 10408
Gene Symbol: MYCNOS
MYCNOS
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.100 GeneticVariation CLINVAR