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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Cognitive Impairment with or Without Cerebellar Ataxia
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Accession:DOID:9008255 term browser browse the term
Definition:Cognitive impairment with or without cerebellar ataxia is caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. (OMIM)
Synonyms:exact_synonym: CIAT
 narrow_synonym: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA
 primary_id: MIM:614306


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Cognitive Impairment with or Without Cerebellar Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1b activin A receptor type 1B ISO ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Ankrd33 ankyrin repeat domain 33 ISO ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 NCBI chr 7:132,224,299...132,228,106
Ensembl chr 7:132,225,090...132,227,845 		JBrowse link
G Fignl2 fidgetin-like 2 ISO ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 NCBI chr 7:132,160,006...132,187,896
Ensembl chr 7:132,162,390...132,164,336 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia OMIM
ClinVar		 PMID:12374766 PMID:16236810 PMID:17881658 PMID:22365152 PMID:23934111 More... NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
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Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              cognitive disorder 2316
                Cognitive Impairment with or Without Cerebellar Ataxia 5
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