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GENE - TERM ANNOTATION REPORT

CRRD ID: 1318284
Species: Homo sapiens
CRRD Object: Gene
Symbol: ATP8B1
Name: ATPase phospholipid transporting 8B1
Acc ID: DOID:0070227
Term: intrahepatic cholestasis of pregnancy
Definition: An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27936482
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 EXP 11554173CTDCTD Direct Evidence: marker/mechanism

 
 IAGPRGD:115791218554872ClinVarClinVar Annotator: match by term: Cholestasis of pregnancy

 
 IAGPRGD:85974798554872ClinVarClinVar Annotator: match by term: Cholestasis of pregnancy

PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868
 IAGPRGD:85974808554872ClinVarClinVar Annotator: match by term: Cholestasis of pregnancy

PMID:15888793
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.