Disease: Turcot syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.710 GeneticVariation BEFREE Furthermore, in the family with Turcot syndrome, in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13. 15077197 2004
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		A 0.710 CausalMutation CLINVAR