MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Turcot syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455 2015
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 22167527 2012
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981 2007
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529 2001
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930 1995
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		AC 0.800 CausalMutation CLINVAR