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GENE - TERM ANNOTATION REPORT

CRRD ID: 733851
Species: Homo sapiens
CRRD Object: Gene
Symbol: CDH23
Name: cadherin related 23
Acc ID: DOID:0110826
Term: Usher syndrome type 1
Definition: Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Subtypes include types 1B - 1I.
Definition Source(s): https://ghr.nlm.nih.gov/condition/usher-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1265/, https://www.ncbi.nlm.nih.gov/pubmed/2909824
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGPRGD:110895038554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 1

PMID:21569298
 IAGPRGD:110914518554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 1

PMID:12075507, PMID:16679490, PMID:16963483, PMID:19683999, PMID:20613545, PMID:21569298, PMID:21738395, PMID:24033266, PMID:25468891
 IAGPRGD:85583668554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 1

PMID:12075507, PMID:15537665
 IAGPRGD:85583678554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 1

PMID:15537665, PMID:15660226, PMID:24033266
 IAGPRGD:85583688554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 1

PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:26467025
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.