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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
 xref: MIM:105550;   MONDO:0007105;   NCI:C168756


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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 chr10:35,422,030...35,627,483
Ensembl chr10:35,422,030...35,627,483 		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 chr10:35,124,941...35,157,954
Ensembl chr10:35,124,941...35,157,857 		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 chr10:34,680,926...34,683,176
Ensembl chr10:35,179,965...35,184,809 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,669,003...35,683,729 		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 chr10:35,187,412...35,203,909
Ensembl chr10:35,193,890...35,203,906 		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 chr10:35,060,002...35,066,466
Ensembl chr10:35,061,437...35,063,768 		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 chr10:35,089,715...35,124,100
Ensembl chr10:35,089,715...35,124,100 		JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,049,421...35,060,307
Ensembl chr10:35,050,512...35,060,309 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:54,562,570...54,587,649
Ensembl chr 5:54,562,570...54,587,637 		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 chr10:35,206,801...35,251,696
Ensembl chr10:35,206,801...35,251,696 		JBrowse link
G Spata31d1c SPATA31 subfamily D member 1C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr17:159,402...164,239
Ensembl chr17:165,187...170,024 		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 chr10:35,026,598...35,037,750
Ensembl chr10:35,026,598...35,037,750 		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 chr10:35,630,738...35,647,176
Ensembl chr10:35,630,738...35,646,754 		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 chr10:35,649,693...35,659,692
Ensembl chr10:35,649,697...35,659,732 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Diseases of the Aged 1480
      dementia 878
        Frontotemporal Lobar Degeneration 170
          frontotemporal dementia 167
            Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 111
              frontotemporal dementia and/or amyotrophic lateral sclerosis 1 14
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              cognitive disorder 2320
                dementia 878
                  Frontotemporal Lobar Degeneration 170
                    frontotemporal dementia 167
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 111
                        frontotemporal dementia and/or amyotrophic lateral sclerosis 1 14
paths to the root