rs1554293810, PMS2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529 2010
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. 16338176 2006
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723 1999
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR