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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:amyotrophic lateral sclerosis type 10
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Accession:DOID:0060201 term browser browse the term
Definition:An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. (DO)
Synonyms:exact_synonym: ALS10;   AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;   amyotrophic lateral sclerosis 10
 broad_synonym: TARDBP-RELATED CONDITION
 related_synonym: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED;   FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,;   FTLD-TDP, TARDBP-related;   MESH:C567429;   TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
 alt_id: OMIM:612069
 xref: GARD:10497;   NCI:C168752


show annotations for term's descendants           Sort by:
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:16862116 PMID:16950801 PMID:17698705 PMID:22608501 PMID:25741868 More... NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA ClinVar NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:20428114 PMID:21802176 PMID:21852022 PMID:25741868 PMID:26203661 More... NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr 7:130,218,149...130,222,136
Ensembl chr 7:130,218,357...130,222,136 		JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532 NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117 		JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA ClinVar PMID:7891072 PMID:8351519 PMID:8446170 PMID:9008494 PMID:9029070 More... NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tardbp TAR DNA binding protein ISO
ISS		 ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: TARDBP-related condition
OMIM:612069
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:18068872 PMID:18288693 PMID:18309045 PMID:18372902 PMID:18396105 More... NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar PMID:25741868 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        Proteostasis Deficiencies 794
          TDP-43 Proteinopathies 421
            amyotrophic lateral sclerosis 382
              amyotrophic lateral sclerosis type 10 10
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              motor neuron disease 531
                MOTOR NEURON ATROPHY 382
                  amyotrophic lateral sclerosis 382
                    amyotrophic lateral sclerosis type 10 10
paths to the root