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GENE - TERM ANNOTATION REPORT

RGD ID: 1351274
Species: Homo sapiens
RGD Object: Gene
Symbol: DYNC1H1
Name: dynein cytoplasmic 1 heavy chain 1
Acc ID: DOID:9002121
Term: Spinocerebellar Ataxias
Definition: A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Definition Source(s): MESH:D020754
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)
DYNC1H1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:25741868 PMID:26467025 PMID:28492532
DYNC1H1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:25741868 PMID:26344056 PMID:26467025 PMID:28492532
DYNC1H1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:25741868 PMID:28492532
DYNC1H1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:25741868
DYNC1H1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:28492532
DYNC1H1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532
DYNC1H1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
DYNC1H1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia, DominantPMID:24033266 PMID:25741868 PMID:28492532
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