Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 Biomarker disease HPO
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 CausalMutation disease CLINVAR
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 GermlineCausalMutation disease ORPHANET
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4 		0.500 Biomarker disease HPO
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 760
Gene Symbol: CA2
CA2 		0.120 Biomarker disease HPO
Entrez Id: 2625
Gene Symbol: GATA3
GATA3 		0.100 Biomarker disease HPO
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 GeneticVariation disease BEFREE Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. 9306337 1997
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 Biomarker disease 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 		0.800 GeneticVariation disease BEFREE 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 		0.800 Biomarker disease BEFREE We evaluated the AE1 gene as a possible candidate gene for familial dRTA. 9497368 1998
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 9600966 1998
Entrez Id: 2996
Gene Symbol: GYPE
GYPE 		0.010 GeneticVariation disease BEFREE Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 9854053 1998
Entrez Id: 2993
Gene Symbol: GYPA
GYPA 		0.010 GeneticVariation disease BEFREE Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 9854053 1998
Entrez Id: 2994
Gene Symbol: GYPB
GYPB 		0.010 GeneticVariation disease BEFREE Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 9854053 1998
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 Biomarker disease BEFREE Because AE1 is also found in the basolateral membrane of type A intercalated cells of the kidney, distal renal tubular acidosis (dRTA) might develop if the function of AE1 is critical for the net excretion of acid. 10352205 1999
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 GeneticVariation disease BEFREE The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene. 10353704 1998
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 GeneticVariation disease BEFREE These findings suggest that compound heterozygosity of abnormal AE1 genes causes autosomal recessive dRTA in SAO. 10571775 1999
Entrez Id: 213
Gene Symbol: ALB
ALB 		0.010 Biomarker disease BEFREE Elevated urinary RBP (>0.017) and albumin < (10 x RBP) + 2 identified all patients with the LMWP of Dent's disease and clearly distinguished their LMWP from that of dRTA and GN. 10620205 2000
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 GeneticVariation disease BEFREE Several mutations in the AE1 gene cosegregate with dominant dRTA. 11160790 2001
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE By contrast, more recent studies have shown that mutations in ATP6B1, encoding the B-subtype unit of the apical H(+) ATPase, are responsible for a group of patients with autosomal recessive dRTA associated with sensorineural deafness. 11160790 2001
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP 		0.100 GeneticVariation disease BEFREE The R589H dRTA mutation creates a severe trafficking defect in kAE1 but not in erythroid AE1. 11934690 2002
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 GeneticVariation disease BEFREE Dominant dRTA is usually due to a mutation of the AE1 gene, which does not alter red cell morphology. 12081559 2002