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: rs587778998
rs587778998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 GeneticVariation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997 2015
dbSNP: rs587778998
rs587778998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
dbSNP: rs587778998
rs587778998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 GeneticVariation CLINVAR Comprehensive functional assessment of MLH1 variants of unknown significance. 22736432 2012
dbSNP: rs587778998
rs587778998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
dbSNP: rs587778998
rs587778998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 GeneticVariation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
dbSNP: rs587778998
rs587778998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
dbSNP: rs587778998
rs587778998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 CausalMutation CLINVAR Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. 15475387 2004