×
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
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
0.540
Biomarker
phenotype
MGD
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.
21228764
2011
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
0.540
GeneticVariation
phenotype
LHGDN
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.
18614622
2008
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
0.540
Biomarker
phenotype
CTD_human
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.
18614622
2008
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
0.540
GeneticVariation
phenotype
LHGDN
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia.
16707554
2006
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
0.540
Biomarker
phenotype
LHGDN
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
15930088
2005
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
0.540
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:
6559
Gene Symbol:
SLC12A3
SLC12A3
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
2299
Gene Symbol:
FOXI1
FOXI1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
29242249
2018