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GENE - TERM ANNOTATION REPORT

CRRD ID: 628779
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Clrn1
Name: clarin 1
Acc ID: DOID:0110841
Term: Usher syndrome type 3A
Definition: An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11524702
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)
 ISOCRRD:737108634439CRRD  
 ISOCRRD:7371087240710OMIM  
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

 
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

PMID:11524702, PMID:12145752
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

PMID:12080385
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

PMID:12145752
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

PMID:17407589, PMID:19753315, PMID:23304067, PMID:24033266
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

PMID:17893653
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

PMID:21675857, PMID:24033266
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

PMID:22952768, PMID:23304067
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by OMIM:276902

PMID:24033266
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 3A

PMID:11524702, PMID:12145752, PMID:19753315, PMID:24033266
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 3A

PMID:15521980
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 3A

PMID:20717163, PMID:24033266
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 3A

PMID:22135276, PMID:24033266
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 3A

PMID:22952768, PMID:24033266
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by term: Usher syndrome, type 3A

PMID:25268133, PMID:27610647, PMID:28471114
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA

PMID:12080385, PMID:12145752, PMID:14569126, PMID:16028794, PMID:18281613, PMID:19423712, PMID:19753315, PMID:22787034, PMID:24033266, PMID:26180195, PMID:28041643
 ISOCRRD:7371088554872ClinVarClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA

PMID:12080385, PMID:15521980, PMID:23304067, PMID:24033266, PMID:24596593, PMID:28041643
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.