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: 1352329
Species: Homo sapiens
RGD Object: Gene
Symbol: CCDC22
Name: coiled-coil domain containing 22
Acc ID: DOID:0090110
Term: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Definition: An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome "DO" "DO", https://www.omim.org/entry/304790 "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)
CCDC22 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndromePMID:28492532
CCDC22 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndromePMID:11137992 PMID:11137993 PMID:28492532
CCDC22 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndromePMID:19471859 PMID:28492532 PMID:30443250
Go Back to source page   Continue to Ontology report