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GENE - TERM ANNOTATION REPORT

RGD ID: 1303284
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trpa1
Name: transient receptor potential cation channel, subfamily A, member 1
Acc ID: DOID:0111729
Term: familial episodic pain syndrome 1
Definition: A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20547126 "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)
Trpa1 ISOTRPA1 (Homo sapiens)7240710OMIM  
Trpa1 ISOTRPA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial episodic pain syndrome 1PMID:20547126 PMID:25741868 PMID:36430572
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