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: 62109
Species: Mus musculus
RGD Object: Gene
Symbol: Col1a1
Name: collagen, type I, alpha 1
Acc ID: DOID:65
Term: connective tissue disease
Definition: A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (DO)
Definition Source(s): http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "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)
Col1a1 ISOCOL1A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorderPMID:15741671 PMID:16786509 PMID:16879195 PMID:18028452 PMID:18272325 PMID:19550437 PMID:20696291 PMID:21594610 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25963598 PMID:26188975 PMID:26235824 PMID:26467025 PMID:27380894 PMID:28492532 PMID:28748566 PMID:29543232 PMID:29946973 PMID:31584903 PMID:8079666 PMID:8456808
Go Back to source page   Continue to Ontology report