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GENE - TERM ANNOTATION REPORT

RGD ID: 1307459
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bicc1
Name: BicC family RNA binding protein 1
Acc ID: DOID:0111682
Term: diffuse cystic renal dysplasia
Definition: A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21922595 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8725780 "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)
Bicc1susceptibilityISOBICC1 (Homo sapiens)7240710OMIM  
Bicc1 ISOBICC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BICC1-related condition | ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility toPMID:21922595 PMID:25741868 PMID:28492532
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