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: rs1554298082
rs1554298082
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		C 0.700 CausalMutation CLINVAR Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency. 23629955 2013