GANAB, glucosidase II alpha subunit, 23193

N. diseases: 26; N. variants: 17
Disease: Polycystic liver disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.120 GeneticVariation disease BEFREE A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. 29243290 2018
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.120 AlteredExpression disease BEFREE In addition, levels of normal hepatocystin and of the glucosidase II alpha subunit are substantially reduced in liver and Epstein-Barr virus-immortalized B lymphoblasts from patients with polycystic liver disease. 15188177 2004
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.120 GeneticVariation disease CLINVAR
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.120 CausalMutation disease CLINVAR