SEC61B, SEC61 translocon subunit beta, 10952

N. diseases: 5; N. variants: 2
Disease: Isolated polycystic liver disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4255088
Disease: Isolated polycystic liver disease
Isolated polycystic liver disease 		0.010 GeneticVariation disease BEFREE These mutations, together with the newly identified ones in SEC61B and Alpha-1,3-Glucosyltransferase (ALG8), can be found in ∼50% of patients with isolated polycystic liver disease. 30652979 2019