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GENE - TERM ANNOTATION REPORT

RGD ID: 1589651
Species: Rattus norvegicus
RGD Object: Gene
Symbol: C8h3orf62
Name: similar to human chromosome 3 open reading frame 62
Acc ID: DOID:0110293
Term: autosomal recessive limb-girdle muscular dystrophy type 2P
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21388311 "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)
C8h3orf62 ISOC3orf62 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2PPMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532
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