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GENE - TERM ANNOTATION REPORT

RGD ID: 620298
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abcg5
Name: ATP binding cassette subfamily G member 5
Acc ID: DOID:0090019
Term: sitosterolemia
Definition: An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11099417 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/11138003 "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)
Abcg5susceptibilityIAGP 1598659RGDDNA:missense mutation: p.G583C , 1757G>T (rat) 
Abcg5 ISOABCG5 (Homo sapiens)631968RGD  
Abcg5 ISOABCG5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11099417 PMID:11138003
Abcg5 ISOABCG5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SitosterolemiaPMID:11099417 PMID:11138003 PMID:11452359 PMID:11668628 PMID:11855938 PMID:11893785 PMID:11907139 PMID:15054092 PMID:15375183 PMID:16029460 PMID:16199547 PMID:17228349 PMID:17576681 PMID:17632509 PMID:17976197 PMID:19111681 PMID:19667188 PMID:20466091 PMID:20521169 PMID:20543520 PMID:20719861 PMID:20849526 PMID:21039838 PMID:21274884 PMID:21576934 PMID:21729603 PMID:22898925 PMID:24033266 PMID:24166850 PMID:24423340 PMID:24503134 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26813946 PMID:26892138 PMID:27170062 PMID:27291889 PMID:27884173 PMID:28203044 PMID:28492532 PMID:28521186 PMID:28696550 PMID:28748566 PMID:28771437 PMID:29055934 PMID:29066094 PMID:29304564 PMID:29353225 PMID:29886606 PMID:30007774 PMID:30270055 PMID:30349881 PMID:30528907 PMID:30697800 PMID:30782472 PMID:30833958 PMID:30985648 PMID:31060161 PMID:31064749 PMID:31392106 PMID:31589614 PMID:31795497 PMID:31901240 PMID:32041611 PMID:32088153 PMID:32165824 PMID:32166861 PMID:32275988 PMID:32702746 PMID:32862661 PMID:33217533 PMID:33269076 PMID:33642439 PMID:34093240 PMID:34268478 PMID:34304999 PMID:34355501 PMID:34505049 PMID:34615826 PMID:34650182 PMID:34887220 PMID:34969652 PMID:34998859 PMID:35042526 PMID:35557526 PMID:35741760 PMID:36229885 PMID:9536098
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