MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
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: rs63750508
rs63750508
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles. 24415873 2014
dbSNP: rs63750508
rs63750508
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
dbSNP: rs63750508
rs63750508
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. 21598002 2011
dbSNP: rs63750508
rs63750508
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843 2010
dbSNP: rs63750508
rs63750508
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 18772310 2008
dbSNP: rs63750508
rs63750508
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. 17569143 2007
dbSNP: rs63750508
rs63750508
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141 2003
dbSNP: rs63750508
rs63750508
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 8566964 1996