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GENE - TERM ANNOTATION REPORT

RGD ID: 18629040
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: HNF4A
Name: hepatocyte nuclear factor 4 alpha
Acc ID: DOID:9000808
Term: Hypercholesterolemia
Definition: A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population.
Definition Source(s): MESH:D006937
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)
HNF4AresistanceISOHNF4A (Homo sapiens)9068941RGDFinnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1)PMID:16804065 REF_RGD_ID:1601642
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