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GENE - TERM ANNOTATION REPORT

RGD ID: 1553848
Species: Mus musculus
RGD Object: Gene
Symbol: Ush1c
Name: USH1 protein network component harmonin
Acc ID: DOID:0050439
Term: Usher syndrome
Definition: A syndrome characterized by a combination of hearing loss and visual impairment. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Usher_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)
Ush1c IMP 8694458RGD  
Ush1c IMP 8695939RGD  
Ush1c ISOUSH1C (Homo sapiens)8547536RGD  
Ush1c ISOUSH1C (Homo sapiens)8694457RGDDNA:mutations:cds: 
Ush1ctreatmentISOUSH1C (Homo sapiens)8695937RGD  
Ush1c ISOUSH1C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndromePMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23380860 PMID:24033266 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:30096381 PMID:30303587 PMID:30718709
Ush1c ISOUSH1C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndromePMID: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:17174357 PMID:17407589 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:24498627 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:9760205
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