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GENE - TERM ANNOTATION REPORT

RGD ID: 1590969
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pcdh15
Name: protocadherin related 15
Acc ID: DOID:0110826
Term: Usher syndrome type 1
Definition: An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/usher-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1265/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2909824 "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)
Pcdh15 ISOPCDH15 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Usher syndrome type 1PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17576681 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26166082 PMID:26467025 PMID:26791358 PMID:26969326 PMID:27058588 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27610647 PMID:27766948 PMID:27861356 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:31054281 PMID:33090715 PMID:33576794 PMID:34416374 PMID:9536098
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