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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 1
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Accession:DOID:0060213 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)
Synonyms:exact_synonym: FTDALS1;   amyotrophic lateral sclerosis and/or frontotemporal dementia
 primary_id: MESH:C566288
 alt_id: MIM:105550
 xref: NCI:C168756


show annotations for term's descendants           Sort by:
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,492,912...50,698,400
Ensembl chr11:50,492,911...50,698,400 		JBrowse link
G C9orf72 C9orf72, member of C9orf72-SMCR8 complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26769963 PMID:28492532 NCBI chr 4:35,191,285...35,226,153
Ensembl chr 4:35,191,285...35,226,175 		JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,184,784...50,216,500
Ensembl chr11:50,184,788...50,216,500 		JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,248,588...50,250,529
Ensembl chr11:50,248,588...50,250,526 		JBrowse link
G Grm6 glutamate receptor, metabotropic 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,266,084...50,277,355
Ensembl chr11:50,267,817...50,277,355 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443 		JBrowse link
G Maml1 mastermind like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,146,461...50,183,163
Ensembl chr11:50,146,461...50,183,138 		JBrowse link
G Mgat4b mannoside acetylglucosaminyltransferase 4, isoenzyme B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,116,162...50,125,930
Ensembl chr11:50,101,717...50,125,930 		JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,280,113...50,322,101
Ensembl chr11:50,280,113...50,321,952 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 More... NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654 		JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,701,912...50,718,558
Ensembl chr11:50,701,913...50,718,551 		JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr11:50,719,821...50,732,414
Ensembl chr11:50,722,858...50,732,379 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16234
    Diseases of the Aged 1288
      dementia 870
        Frontotemporal Lobar Degeneration 171
          frontotemporal dementia 168
            Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 110
              frontotemporal dementia and/or amyotrophic lateral sclerosis 1 13
Path 2
Term Annotations click to browse term
  disease 16234
    disease of anatomical entity 15851
      nervous system disease 13784
        central nervous system disease 12292
          brain disease 11541
            disease of mental health 8326
              cognitive disorder 2201
                dementia 870
                  Frontotemporal Lobar Degeneration 171
                    frontotemporal dementia 168
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 110
                        frontotemporal dementia and/or amyotrophic lateral sclerosis 1 13
paths to the root