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GENE - TERM ANNOTATION REPORT

RGD ID: 12403891
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: PCDH15
Name: protocadherin related 15
Acc ID: DOID:0110831
Term: Usher syndrome type 1D
Definition: An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. (DO)
Definition Source(s): PMID:11138009 "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)7240710OMIM  
PCDH15 ISOPCDH15 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1DPMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17277737 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19107147 PMID:19375528 PMID:19683999 PMID:20301442 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22815625 PMID:22981120 PMID:23451239 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24705292 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25525159 PMID:25575603 PMID:25741868 PMID:25999675 PMID:26166082 PMID:26346818 PMID:26467025 PMID:26872967 PMID:27058588 PMID:27440999 PMID:27460420 PMID:27610647 PMID:27743452 PMID:27766948 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28559085 PMID:28847902 PMID:28900111 PMID:29568747 PMID:29625443 PMID:30054919 PMID:30245029 PMID:30311386 PMID:30459346 PMID:30718709 PMID:32483926 PMID:33089500 PMID:33576794 PMID:34416374 PMID:34426522 PMID:34751129 PMID:35580552 PMID:36147510 PMID:9536098
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