Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.800 GenomicAlterations disease CGI
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.510 GenomicAlterations disease CGI
Entrez Id: 8312
Gene Symbol: AXIN1
AXIN1 		0.340 GenomicAlterations disease CGI
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		0.320 GenomicAlterations disease CGI
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 CausalMutation disease CGI
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 CausalMutation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 CausalMutation disease CLINVAR
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 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: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.800 CausalMutation disease CGI
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: 51684
Gene Symbol: SUFU
SUFU 		0.800 CausalMutation disease CGI
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 CGI
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: 4683
Gene Symbol: NBN
NBN 		0.620 CausalMutation disease CGI
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		0.610 CausalMutation disease CLINVAR
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.510 CausalMutation disease CGI
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.420 CausalMutation disease CGI
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		0.400 CausalMutation disease CGI
Entrez Id: 8312
Gene Symbol: AXIN1
AXIN1 		0.340 CausalMutation disease CGI
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		0.320 CausalMutation disease CGI
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 AlteredExpression disease BEFREE Brain- and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas. 16934747 2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.900 AlteredExpression disease BEFREE Constitutive activation of hedgehog signaling, often caused by PTCH1 inactivation and leading to inappropriate activation of GLI target genes, is crucial for the development of several human tumors including basal cell carcinoma of the skin and medulloblastoma. 15521068 2005