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: 1553848
Species: Mus musculus
RGD Object: Gene
Symbol: Ush1c
Name: USH1 protein network component harmonin
Acc ID: DOID:0110473
Term: autosomal recessive nonsyndromic deafness 18A
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12136232 "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)
Ush1c IMP 8694458RGD  
Ush1c ISOUSH1C (Homo sapiens)7240710OMIM  
Ush1c ISOUSH1C (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ush1c ISOUSH1C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18APMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:25741913 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:31858762 PMID:32747562 PMID:33576794 PMID:33724713 PMID:9536098 PMID:9760205
Ush1c IAGP 13592920MouseDOOMIM:602092 
Go Back to source page   Continue to Ontology report