Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 1309227
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mlh3
Name: mutL homolog 3
Acc ID: DOID:3883
Term: Lynch syndrome
Definition: A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer "DO" "DO", http://ghr.nlm.nih.gov/condition/lynch-syndrome "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Mlh3 ISOMLH3 (Homo sapiens)1600415RGDDNA:point mutations:exon:Q24E, N499S, E624Q, E1451K 
Mlh3 ISOMLH3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12702580
Mlh3 ISOMLH3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndromePMID:11586295 PMID:12800209 PMID:18521850 PMID:19156873 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29212164
Mlh3 ISOMLH3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndromePMID:11586295 PMID:18521850 PMID:19156873 PMID:25637381 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29212164
Go Back to source page   Continue to Ontology report