Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.690 Biomarker CTD_human Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells. 23460825

2013
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.690 Biomarker CTD_human Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 9312167

1997
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.540 Biomarker CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622

2008
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.300 Biomarker GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249

2018