Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. 28805995 2017
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		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: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Avoidance of pseudogene interference in the detection of 3' deletions in PMS2. 21618646 2011
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR PMS2 mutations in childhood cancer. 16507833 2006
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197 2004
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723 1999
dbSNP: rs63751466
rs63751466
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Review of the basic principles of drug action. 2440087 1986