Disease: Cholestasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.310 GeneticVariation disease BEFREE We identified pathogenic MPV17 and DGUOK mutations in 11 infants (6 females) representing 2.5% of the 450 cases of infantile cholestasis and 22% of the 50 cases of infantile liver failure referred to our center during the study period. 24321534 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.310 Biomarker disease GENOMICS_ENGLAND Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. 18695062 2008