Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 ×
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: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		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: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		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: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.700 CausalMutation CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480 1998