Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.400 Biomarker disease GENOMICS_ENGLAND GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. 12215968 2002
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.400 Biomarker disease GENOMICS_ENGLAND Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. 9792866 1998
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.400 Biomarker disease HPO