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 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 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 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: 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: 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 GeneticVariation disease BEFREE These findings suggest that compound heterozygosity of abnormal AE1 genes causes autosomal recessive dRTA in SAO. 10571775 1999
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: 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: 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
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		0.800 GeneticVariation disease BEFREE However, recent studies of Thai dRTA families have shown that mutations in this gene result in autosomal recessive (AR) dRTA, giving rise to the postulation that AE1 gene mutations causing AR dRTA might be found commonly in Thai pediatric patients with dRTA. 12087557 2002