rs267607901, MLH1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pancreatic Cancer in Lynch Syndrome Patients. 29151953 2017
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708 2016
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709 2014
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709 2014
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
0.700 CausalMutation CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709 2014
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 Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482 2008
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995 2004
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. 12799449 2003
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. 9559627 1998
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773 1996
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773 1996
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
0.700 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773 1996
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
0.700 CausalMutation CLINVAR