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GENE - TERM ANNOTATION REPORT

RGD ID: 1619063
Species: Mus musculus
RGD Object: Gene
Symbol: Dtnbp1
Name: dystrobrevin binding protein 1
Acc ID: DOID:0060545
Term: Hermansky-Pudlak syndrome 7
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. (DO)
Definition Source(s): http://omim.org/entry/614076 "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)
Dtnbp1 ISODTNBP1 (Homo sapiens)7240710OMIM  
Dtnbp1 ISODTNBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 PMID:28492532 PMID:30990103
Dtnbp1 IAGP 13592920MouseDOOMIM:614076 
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