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GENE - TERM ANNOTATION REPORT

RGD ID: 1309672
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Man1c1
Name: mannosidase, alpha, class 1C, member 1
Acc ID: DOID:0110633
Term: rigid spine muscular dystrophy 1
Definition: A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11528383 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12192640 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15122708 "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)
Man1c1 ISOMAN1C1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophyPMID:21131290 PMID:21670436 PMID:28492532
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