SLC4A2, solute carrier family 4 member 2, 6522

N. diseases: 35; N. variants: 6
Disease: Cholangiopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3666017
Disease: Cholangiopathy
Cholangiopathy 		0.010 AlteredExpression disease BEFREE Primary biliary cholangitis (PBC) is a chronic fibrosing cholangiopathy characterized by an autoimmune stereotype and defective biliary bicarbonate secretion due to down-regulation of anion exchanger 2 (AE2). 28962898 2018