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GENE - TERM ANNOTATION REPORT

RGD ID: 12525591
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Kif5a
Name: kinesin family member 5A
Acc ID: DOID:0081379
Term: amyotrophic lateral sclerosis type 25
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)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29566793/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Kif5a ISOKIF5A (Homo sapiens)7240710OMIM  
Kif5a ISOKIF5A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosisPMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 PMID:29566793 PMID:29954873 PMID:32815063 PMID:9536098
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