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amyotrophic lateral sclerosis type 25 - Ontology Report - Rat Genome Database

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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 25
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Accession:DOID:0081379 term browser browse the term
Definition:An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). (DO)
Synonyms:exact_synonym: ALS25;   KIF5A-related amyotrophic lateral sclerosis;   amyotrophic lateral sclerosis 25
 related_synonym: susceptibility to amyotrophic lateral sclerosis-25
 primary_id: MIM:617921
 alt_id: DOID:9009136
 xref: NCI:C189922

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amyotrophic lateral sclerosis type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chrNW_004624802:10,375,132...10,409,575
Ensembl chrNW_004624802:10,375,774...10,409,566 		JBrowse link
G G KIF5A kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr11:53,458,795...53,493,801 JBrowse link
G P KIF5A kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973 		JBrowse link
G S Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832 		JBrowse link
G D KIF5A kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767 		JBrowse link
G B KIF5A kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327 		JBrowse link
G C Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chrNW_004955458:5,264,274...5,310,962
Ensembl chrNW_004955458:5,287,111...5,310,962 		JBrowse link
G R Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G M Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		JBrowse link
G H KIF5A kinesin family member 5A susceptibility IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25
ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 More... NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        Proteostasis Deficiencies 8928
          TDP-43 Proteinopathies 4553
            amyotrophic lateral sclerosis 4106
              amyotrophic lateral sclerosis type 25 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        peripheral nervous system disease 45985
          neuropathy 43737
            neuromuscular disease 33680
              motor neuron disease 5670
                MOTOR NEURON ATROPHY 4107
                  amyotrophic lateral sclerosis 4106
                    amyotrophic lateral sclerosis type 25 10
paths to the root