Disease: Liver Cirrhosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.050 GeneticVariation disease BEFREE Autosomal recessive mutations in the PHKG2 gene, which cause about 10-15% of cases, have been associated with severe symptoms including increased risk of liver cirrhosis in childhood. 24389071 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.050 Biomarker disease BEFREE Therefore, defect in PHKG2 should be considered in patients with suspected glycogenosis associated with significant liver fibrosis and cirrhosis. 24326380 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.050 GeneticVariation disease BEFREE Patients with PHKG2 mutations evolved towards cirrhosis. 21646031 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.050 GeneticVariation disease BEFREE Three patients with liver cirrhosis in childhood analyzed previously all had PHKG2 mutations. 12930917 2003
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.050 GeneticVariation disease BEFREE As liver Phk deficiency is generally a benign condition and progression to cirrhosis is very rare, this finding suggests that PHKG2 mutations are associated with an increased cirrhosis risk. 9384616 1998