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: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986 2016
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568 2011
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Anaplastic oligoastrocytoma in Turcot syndrome. 19495563 2009
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 18709565 2008
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. 15845562 2005
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR PMS2 mutations in childhood cancer. 16284300 2005
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 16283678 2005
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197 2004
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The hPMS2 exon 5 mutation and malignant glioma. Case report. 10223463 1999
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480 1998
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mismatch repair deficiency in phenotypically normal human cells. 7632227 1995
dbSNP: rs63750871
rs63750871
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The molecular basis of Turcot's syndrome. 7661930 1995