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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: OMIM: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 IAGP ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 NCBI chr12:51,951,699...51,997,078
Ensembl chr12:51,951,699...51,997,078 		JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ANKRD33 ankyrin repeat domain 33 IAGP ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 NCBI chr12:51,888,103...51,891,727
Ensembl chr12:51,888,009...51,891,727 		JBrowse link
G FIGNL2 fidgetin like 2 IAGP ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 NCBI chr12:51,817,899...51,848,718
Ensembl chr12:51,817,899...51,848,718 		JBrowse link
G LOC114803470 SCN8A eExon liver enhancer IAGP ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:51,662,737...51,663,319 JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP
EXP		 ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia
ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12374766 PMID:16236810 PMID:17881658 PMID:22365152 PMID:25326635 More... NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          brain disease 22047
            disease of mental health 17231
              cognitive disorder 5508
                Cognitive Impairment with or Without Cerebellar Ataxia 6
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