Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
0.350 Biomarker disease GENOMICS_ENGLAND Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 29707407 2018
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
0.350 Biomarker disease GENOMICS_ENGLAND Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan. 29499989 2018
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
0.350 GeneticVariation disease BEFREE This study has expanded known mutations in ABCB4 and ABCB11 and identified roles in ICP for mutations in ATP8B1 and ABCC2. 28924228 2017
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
0.350 Biomarker disease BEFREE Real time reverse transcriptase polymerase chain reaction was applied for the mRNA expression measurement of 8 bile acid transport correlative proteins, organic anion transporting polypeptide (OATP)1A2, OATP1B1, multidrug resistance protein (MRP)1, MRP2, anion exchanger (AE)2, bile salt export pump (BSEP), multidrug resistance 3, and familial intrahepatic cholestasis (FIC)1, in normal human placentas (n=20) and those with ICP (n=20). 19882051 2009
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
0.350 Biomarker disease BEFREE We would like to add some comments on a paper recently published concerning the role of ABCB11 and ABCC2 polymorphisms in both ICP and contraceptive-induced cholestasis, especially in the light of our recently published findings about a positive association between ICP and ABCC2 common variants. 18395921 2008
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
0.350 GeneticVariation disease BEFREE We found an association between the rs3740066 in exon 28 of ABCC2 gene and ICP. 17997497 2008
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
0.350 GeneticVariation disease BEFREE In contrast, none of the studied ABCC2 polymorphism was overrepresented in ICP or CIC patients. 18176959 2008