| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.740 | Biomarker | disease | GENOMICS_ENGLAND | Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. | 25403219 | 2014 | ||||
|
0.740 | SusceptibilityMutation | disease | ORPHANET | These data indicate that germline SUFU mutations were responsible for a high proportion of desmoplastic medulloblastoma in children younger than 3 years of age. | 22508808 | 2012 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | These data indicate that germline SUFU mutations were responsible for a high proportion of desmoplastic medulloblastoma in children younger than 3 years of age. | 22508808 | 2012 | ||||
|
0.740 | SusceptibilityMutation | disease | ORPHANET | The SUFU mutations were identified in two of the 16 individuals with desmoplastic medulloblastomas. | 21188540 | 2011 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | The SUFU mutations were identified in two of the 16 individuals with desmoplastic medulloblastomas. | 21188540 | 2011 | ||||
|
0.740 | SusceptibilityMutation | disease | ORPHANET | Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. | 19833601 | 2010 | ||||
|
0.740 | Biomarker | disease | BEFREE | Previous studies revealed mutations in genes encoding members of the sonic hedgehog pathway, including PTCH, SMOH and SUFUH in DMBs. | 16400626 | 2006 | ||||
|
0.740 | SusceptibilityMutation | disease | ORPHANET | Mutations in SUFU predispose to medulloblastoma. | 12068298 | 2002 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | The identification of SUFU mutations in desmoplastic medulloblastoma provides new insights into vertebrate Hedgehog signaling and brain tumor formation. | 12150819 | 2002 | ||||
|
0.740 | CausalMutation | disease | CLINVAR | |||||||
|
0.740 | Biomarker | disease | CTD_human |