rs63750447, MLH1

N. diseases: 17
Disease: Malignant neoplasm of gastrointestinal tract ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of gastrointestinal tract
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
0.020 GeneticVariation BEFREE MLH1 V384D germline variant may not only contribute to gastrointestinal cancer predisposition but may also contribute to BC in East Asians. 31358837 2019
Malignant neoplasm of gastrointestinal tract
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
0.020 GeneticVariation BEFREE The V384D and the Q701K variant resulted in the interaction of hMLH1 with hPMS2 at reduced efficiency and might raise the gastrointestinal cancer risk of the mutation carriers. 18094436 2007