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GENE - TERM ANNOTATION REPORT

RGD ID: 14128523
Species: Sus scrofa
RGD Object: Gene
Symbol: LOC100623720
Name: collagen alpha-1(VI) chain
Acc ID: DOID:9277
Term: primary cerebellar degeneration
Definition: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Definition Source(s): MESH:D013132
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)
LOC100623720 ISOCOL6A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Sensorimotor neuropathyPMID:10419498 PMID:12840783 PMID:15955946 PMID:16199547 PMID:17886299 PMID:18366090 PMID:20301676 PMID:20976770 PMID:21280092 PMID:24271325 PMID:25741868 PMID:25749816 PMID:28492532 PMID:29419890
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