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GENE - TERM ANNOTATION REPORT

RGD ID: 620925
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ppargc1a
Name: PPARG coactivator 1 alpha
Acc ID: DOID:12858
Term: Huntington's disease
Definition: A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Huntington_disease "DO" "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple "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)
Ppargc1atreatmentIDA 10053650RGD  
Ppargc1a IEP 10395291RGDprotein:increased expression:subthalamic nucleus (rat) 
Ppargc1a ISOPpargc1a (Mus musculus)6484269RGD  
Ppargc1a ISOPpargc1a (Mus musculus)7242018RGDmRNA:decreased expression:medium spiny neuron (mouse) 
Ppargc1a ISOPPARGC1A (Homo sapiens)6484259RGDDNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) 
Ppargc1a ISOPPARGC1A (Homo sapiens)7242018RGDmRNA:decreased expression:caudate nucleus (human) 
Ppargc1ano_associationISOPPARGC1A (Homo sapiens)10053656RGDDNA:missense mutation:cds:pT612M (rs3736265) (human) 
Ppargc1aonsetISOPPARGC1A (Homo sapiens)6770890RGDDNA:snp:intron:IVS2-19637A>G (rs7665116) (human) 
Ppargc1aonsetISOPPARGC1A (Homo sapiens)10053656RGDDNA:snps, haplotypes:multiple (human) 
Ppargc1aonsetISOPPARGC1A (Homo sapiens)10053663RGDDNA:missense mutation:cds:pT612M (rs3736265) (human) 
Ppargc1aonsetISOPPARGC1A (Homo sapiens)10395290RGDDNA:snp:promoter:g.-1437T>C (rs2970870) (human) 
Ppargc1aseverityISOPpargc1a (Mus musculus)7242018RGD  
Ppargc1aseverityISOPPARGC1A (Homo sapiens)10395289RGDprotein:increased expression:brain (human) 
Ppargc1atreatmentISOPpargc1a (Mus musculus)10053648RGD  
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