Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Progressive intrahepatic cholestasis (disorder)
0.070 AlteredExpression disease BEFREE The severe pruritus, the early onset jaundice, poor growth and raised transaminase levels with normal gamma glutamyl transpeptidase have led to the suspicion of PFIC. 31630127 2019
Progressive intrahepatic cholestasis (disorder)
0.070 AlteredExpression disease BEFREE The grouping of the molecular diagnoses in the group with genetic cholestasis was as follows: 12 with Alagille syndrome, 5 with neonatal Dubin-Johnson syndrome, 5 with neonatal intrahepatic cholestasis caused by citrin deficiency, and 6 with progressive familial intrahepatic cholestasis or benign recurrent intrahepatic cholestasis with low gamma-glutamyl transpeptidase levels. 26858187 2016
Progressive intrahepatic cholestasis (disorder)
0.070 AlteredExpression disease BEFREE Low γ-glutamyl transpeptidase (GGT) level is an important marker for progressive familial intrahepatic cholestasis, yet the cutoff level and clinical application is not well defined. 25141230 2014
Progressive intrahepatic cholestasis (disorder)
0.070 Biomarker disease BEFREE We investigated eight women with ICP and raised serum gamma-GT, but with no known family history of PFIC. 10767346 2000
Progressive intrahepatic cholestasis (disorder)
0.070 AlteredExpression disease BEFREE Different subtypes of PFIC have been described according to serum gamma-glutamyl transpeptidase (GGT) activity. 9049190 1997
Progressive intrahepatic cholestasis (disorder)
0.070 Biomarker disease BEFREE This work details the histologic findings in 84 liver biopsy specimens from 28 patients with progressive familial intrahepatic cholestasis (PFIC), who met the clinical criteria of early onset of chronic unremitting cholestasis, exclusion of any known metabolic or anatomic etiology, and low serum gamma-glutamyl transpeptidase (GGTP) values. 8014759 1994
Progressive intrahepatic cholestasis (disorder)
0.070 Biomarker disease BEFREE Lower values for gamma-glutamyl transpeptidase, averaging 15 IU/L before the administration of phenobarbital, and cholesterol, which averaged 156 mg/dl, are helpful in distinguishing PFIC from other pediatric cholestatic liver diseases. 7912266 1994