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GENE - TERM ANNOTATION REPORT

RGD ID: 631427
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cryl1
Name: crystallin, lambda 1
Acc ID: DOID:0110475
Term: autosomal recessive nonsyndromic deafness 1A
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9139825 "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)
Cryl1 ISOCRYL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 1APMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:28492532
Cryl1 ISOCRYL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:27480936 PMID:28492532
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