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GENE - TERM ANNOTATION REPORT

RGD ID: 631440
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aadac
Name: arylacetamide deacetylase
Acc ID: DOID:0110636
Term: congenital merosin-deficient muscular dystrophy 1A
Definition: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24611677 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550355 "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)
Aadac ISOAADAC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negativePMID:21681106 PMID:25666259 PMID:27854218
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