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GENE - TERM ANNOTATION REPORT

RGD ID: 620579
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pacs1
Name: phosphofurin acidic cluster sorting protein 1
Acc ID: DOID:0050638
Term: transthyretin amyloidosis
Definition: An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis "DO" "DO", http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1194/ "DO" "DO", http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 "DO" "DO", http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1194/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19372706 "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)
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