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GENE - TERM ANNOTATION REPORT

RGD ID: 61975
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ctla4
Name: cytotoxic T-lymphocyte-associated protein 4
Acc ID: DOID:12236
Term: primary biliary cholangitis
Definition: A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis "DO" "DO", http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh "DO" "DO", https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874 "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)
Ctla4disease_progressionISOCTLA4 (Homo sapiens)14398743RGDDNA:SNPs: :rs231775, rs3087243, rs231725 (human) 
Ctla4no_associationISOCTLA4 (Homo sapiens)14398725RGDDNA:SNP:CDS:49A>G(human) 
Ctla4susceptibilityISOCTLA4 (Homo sapiens)2301998RGDautoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human) 
Ctla4susceptibilityISOCTLA4 (Homo sapiens)14398744RGDDNA:SNP:CDS:60G>A(rs3087243)(human) 
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