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GENE - TERM ANNOTATION REPORT

RGD ID: 628841
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trpv1
Name: transient receptor potential cation channel, subfamily V, member 1
Acc ID: DOID:3613
Term: Canavan disease
Definition: A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/2512436/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/3354621/ "DO" "DO", MESH:D017825
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)
Trpv1 ISOTRPV1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spongy degeneration of central nervous systemPMID:10909858 PMID:12638939 PMID:19932039 PMID:27102039 PMID:28492532 PMID:7668285 PMID:9537412
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