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GENE - TERM ANNOTATION REPORT

RGD ID: 1561576
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Zfyve19
Name: zinc finger FYVE-type containing 19
Acc ID: DOID:9002381
Term: Progressive Familial Intrahepatic Cholestasis 9
Definition: An autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the ZFYVE19 gene on chromosome 15q15.
Definition Source(s): OMIM:619849
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)
Zfyve19 ISOZFYVE19 (Homo sapiens)7240710OMIM  
Zfyve19 ISOZFYVE19 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9PMID:25741909 PMID:32737136 PMID:33853651
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