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GENE - TERM ANNOTATION REPORT

RGD ID: 737230
Species: Mus musculus
RGD Object: Gene
Symbol: Nr0b1
Name: nuclear receptor subfamily 0, group B, member 1
Acc ID: DOID:11723
Term: Duchenne muscular dystrophy
Definition: A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy "DO" "DO", http://omim.org/entry/300377 "DO" "DO", http://www.genome.gov/19518854 "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)
Nr0b1 ISONR0B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Duchenne muscular dystrophyPMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:24770780 PMID:28492532 PMID:31705731
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