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GENE - TERM ANNOTATION REPORT

RGD ID: 1557198
Species: Mus musculus
RGD Object: Gene
Symbol: Ttc21b
Name: tetratricopeptide repeat domain 21B
Acc ID: DOID:0111119
Term: nephronophthisis 12
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21258341 "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)
Ttc21b ISOTTC21B (Homo sapiens)7240710OMIM  
Ttc21b ISOTTC21B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ttc21b ISOTTC21B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephronophthisis 12PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:25741905 PMID:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 PMID:9536098
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