Gene: SLC4A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 Biomarker phenotype 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 		0.690 GeneticVariation phenotype LHGDN Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis. 17941824 2008
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 Biomarker phenotype MGD Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1). 17409310 2007
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 GeneticVariation phenotype LHGDN Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. 17533027 2007
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 GeneticVariation phenotype LHGDN Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 15211439 2004
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 GeneticVariation phenotype LHGDN Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis. 14736961 2004
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 GeneticVariation phenotype LHGDN Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. 12938018 2003
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 Biomarker phenotype MGD Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. 12669066 2003
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 GeneticVariation phenotype LHGDN A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. 14654610 2003
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 GeneticVariation phenotype LHGDN Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene. 12087557 2002
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 GeneticVariation phenotype LHGDN Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. 11934690 2002
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 GeneticVariation phenotype BEFREE Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA with ocular abnormalities; in the gene SLC4A1, encoding Cl(-)-HCO3- exchanger (AE1), in autosomal dominant distal RTA; in the gene ATP6B1, encoding B1 subunit of H+-ATPase, in autosomal recessive distal RTA with sensorineural deafness; and in the gene CA2, encoding carbonic anhydrase II, in autosomal recessive osteopetrosis. 11045400 2000
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 Biomarker phenotype RGD Expression of rat kidney anion exchanger 1 in type A intercalated cells in metabolic acidosis and alkalosis. 10600930 1999
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 Biomarker phenotype 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: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 Biomarker phenotype MGD Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. 8808627 1996
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.690 Biomarker phenotype HPO