Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.420 Biomarker disease HPO
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: 79728
Gene Symbol: PALB2
PALB2
0.400 Biomarker disease HPO
Entrez Id: 8312
Gene Symbol: AXIN1
AXIN1
0.340 CausalMutation 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: 7403
Gene Symbol: KDM6A
KDM6A
0.320 CausalMutation disease CGI
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.220 Biomarker disease MGD
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.150 Biomarker disease HPO
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.110 Biomarker disease HPO
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.100 Biomarker disease HPO
Entrez Id: 7486
Gene Symbol: WRN
WRN
0.100 GeneticVariation disease CLINVAR
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 Biomarker disease HPO
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.800 AlteredExpression disease BEFREE <i>WNT</i>-activated nuclear β-catenin accumulating medulloblastomas were smaller than the other entities (95% CI, 5.2-22.3 cm<sup>3</sup> versus 35.1-47.6 cm<sup>3</sup>; <i>P</i> = .03). 28798218 2017
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
0.800 GeneticVariation disease BEFREE (2018) describe genetic models of Sonic Hedgehog (SHH) subgroup of medulloblastoma with SUFU alterations, painting more nuanced roles for SUFU in tumorigenesis and maintenance of Gli2 transcription factor circuitries. 30695694 2019
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.060 GeneticVariation disease BEFREE (2018) describe genetic models of Sonic Hedgehog (SHH) subgroup of medulloblastoma with SUFU alterations, painting more nuanced roles for SUFU in tumorigenesis and maintenance of Gli2 transcription factor circuitries. 30695694 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.800 AlteredExpression disease BEFREE 1p/19q codeletion in grade 2 and 3 gliomas, nuclear beta-catenin expression in medulloblastoma) or response to the treatment (e.g. the methyl guanyl methyl transferase promoter methylation status). 16988585 2006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.090 Biomarker disease BEFREE 21 significantly up-regulated and 12 significantly down-regulated miRNAs were identified in MB primary specimens relative to CD133+ NSCs (p<0.01). 21931624 2011
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.030 AlteredExpression disease BEFREE 275, 23259-23266) reveals that overexpression of Pax3 in a human medulloblastoma cell line, DAOY, resulted in an up-regulation in alpha-2,8-polysialyltransferase (STX) gene expression and an increase in polysialic acid on neural cell adhesion molecule. 11590174 2001
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
0.370 AlteredExpression disease BEFREE 41 primary medulloblastoma tumour samples were analysed for ErbB2 receptor expression using immunohistochemistry, and for aberrations of chromosome 17 and amplification of the MYC oncogene using fluorescence in situ hybridisation. 11531256 2001
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.200 GeneticVariation disease BEFREE Medulloblastoma and PNET neoplasms showed a high incidence of loss of heterozygosity (LOH) on chromosome 17p13, in the region of tumor suppressor gene p53. 12684657 2003
Entrez Id: 5609
Gene Symbol: MAP2K7
MAP2K7
0.020 Biomarker disease BEFREE Medulloblastoma sensitivity to 17-allylamino-17-demethoxygeldanamycin requires MEK/ERKM. 12709419 2003
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.900 Biomarker disease BEFREE Medulloblastoma and RMS are also present in the murine model for Ptch1 deficiency. 12845631 2003
Entrez Id: 324
Gene Symbol: APC
APC
0.700 GeneticVariation disease BEFREE Medulloblastomas from children entered onto the International Society for Pediatric Oncology (SIOP)/United Kingdom Children's Cancer Study Group (UKCCSG) PNET3 trial (n = 109) were examined for beta-catenin immunoreactivity, and where tissue was available, evidence of CTNNB1 and APC mutations. 16258095 2005