rs1564676479, SUFU

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
0.700 GeneticVariation CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219 2014
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
0.700 GeneticVariation CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219 2014
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
0.700 GeneticVariation CLINVAR High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 22508808 2012
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
0.700 GeneticVariation CLINVAR High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. 22508808 2012