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GENE - TERM ANNOTATION REPORT

RGD ID: 1306069
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Vrk1
Name: VRK serine/threonine kinase 1
Acc ID: DOID:12377
Term: spinal muscular atrophy
Definition: A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Spinal_muscular_atrophy "DO" "DO", https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO" "DO", https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26022173 "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)
Vrk1 ISOVRK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal spinal muscular atrophyPMID:18414213 PMID:25741868 PMID:27281532 PMID:28492532 PMID:31090908 PMID:31527692 PMID:35641352
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