Disease: Neoplastic Syndromes, Hereditary ×
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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 25691505 2015
dbSNP: rs1554298082
rs1554298082
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency. 23629955 2013