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: 737353
Species: Homo sapiens
RGD Object: Gene
Symbol: MME
Name: membrane metalloendopeptidase
Acc ID: DOID:0110160
Term: Charcot-Marie-Tooth disease axonal type 2T
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26991897 "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)
MME IAGP 7240710OMIM  
MME EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
MME IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:26991897
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:25741868 PMID:26991897
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:26991897 PMID:27588448 PMID:28492532 PMID:30415211
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:27588448 PMID:28492532
MME IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: MME-related conditionPMID:25741868
MME IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T 
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:15464186 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532 PMID:35318247
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:16199547 PMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532
MME IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:16199547 PMID:26991897 PMID:28492532
MME IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related conditionPMID:25741868 PMID:28492532
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:26991897 PMID:28492532 PMID:33144514
MME IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: MME-related conditionPMID:25741868 PMID:26991897 PMID:28492532
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:25741868 PMID:28492532 PMID:33144514
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:28492532 PMID:33144514
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:16199547 PMID:25741868 PMID:26991897 PMID:28492532 PMID:33144514
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:25741868 PMID:27588448 PMID:28492532 PMID:33144514 PMID:36517691
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:25741868 PMID:26991897 PMID:28492532 PMID:31673878 PMID:33144514
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:25741868 PMID:26991897 PMID:27588448 PMID:28492532
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:26991897 PMID:28492532 PMID:33144514 PMID:34758253
MME IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2TPMID:28492532
Go Back to source page   Continue to Ontology report