SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 14; N. variants: 10
Disease: Renal Tubular Acidosis, Type II ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		0.500 Biomarker disease CTD_human These findings represent the first evidence that in the presence of the NBCe1-A-Q29X mutation that causes proximal renal tubular acidosis, full-length functional NBCe1-A protein can be produced. 18614622 2008