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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:frontotemporal dementia and/or amyotrophic lateral sclerosis-4
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Accession:DOID:0110069 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. (DO)
Synonyms:exact_synonym: FTDALS4
 primary_id: OMIM:616439
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
frontotemporal dementia and/or amyotrophic lateral sclerosis-4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:23453972 More... NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          frontotemporal dementia and/or amyotrophic lateral sclerosis-4 2
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        central nervous system disease 12333
          brain disease 11575
            disease of mental health 8170
              cognitive disorder 2257
                dementia 866
                  Frontotemporal Lobar Degeneration 171
                    frontotemporal dementia 168
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 110
                        frontotemporal dementia and/or amyotrophic lateral sclerosis-4 2
paths to the root