MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Nonpolyposis Colorectal Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749939
rs63749939
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		0.710 GeneticVariation BEFREE Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183 2009
dbSNP: rs63749939
rs63749939
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		A 0.710 CausalMutation CLINVAR