Disease: Medulloblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143277125
rs143277125
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0025149
Disease:
Medulloblastoma 		0.010 GeneticVariation BEFREE We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene. 19283792 2009
dbSNP: rs63750451
rs63750451
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0025149
Disease:
Medulloblastoma 		0.010 GeneticVariation BEFREE We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene. 19283792 2009