SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Disease: Renal Tubular Acidosis, Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908858
rs121908858
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE 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
dbSNP: rs121908858
rs121908858
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE These results, together with the presence of nonfunctional mutants (Q29X and DeltaA) in other patients, suggest that at least approximately 50% reduction of NBC1 activity would be required to cause severe pRTA. 15930088 2005