ATP6V0A4
0.770
Biomarker
disease
CTD_human
ATP6V0A4
0.770
CausalMutation
disease
CLINVAR
ATP6V0A4
0.770
Biomarker
disease
GENOMICS_ENGLAND
ATP6V0A4
0.770
Biomarker
disease
BEFREE
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2 ) to 7q33-34.
10577919
1999
ATP6V0A4
0.770
GeneticVariation
disease
UNIPROT
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
10973252
2000
ATP6V0A4
0.770
Biomarker
disease
GENOMICS_ENGLAND
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
12414817
2002
ATP6V0A4
0.770
GeneticVariation
disease
CLINVAR
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
12414817
2002
ATP6V0A4
0.770
GeneticVariation
disease
UNIPROT
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
12414817
2002
ATP6V0A4
0.770
GeneticVariation
disease
BEFREE
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
12414817
2002
ATP6V1B1
0.360
GeneticVariation
disease
BEFREE
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
12414817
2002
ATP6V1B1
0.360
GeneticVariation
disease
BEFREE
A large proportion of autosomal recessive distal renal tubular acidosis (RTA) is associated with mutations in the ATP6B1 gene encoding the B1 subunit of H+-ATPase.
12500243
2003
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
0.030
GeneticVariation
disease
BEFREE
We have previously demonstrated that compound heterozygous (SAO /G701D ) and homozygous (G701D /G701D ) mutations of the anion exchanger 1 (AE1 ) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients.
12938018
2003
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
0.030
GeneticVariation
disease
BEFREE
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis .
15211439
2004
×
Entrez Id:
55644
Gene Symbol:
OSGEP
OSGEP
0.010
GeneticVariation
disease
BEFREE
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P ) of the human kidney anion exchanger (kAE1 ).
15252044
2004
ATP6V0A4
0.770
GeneticVariation
disease
CLINVAR
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
16611712
2006
ATP6V0A4
0.770
GeneticVariation
disease
BEFREE
Genetic investigation of autosomal recessive distal renal tubular acidosis : evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
16611712
2006
ATP6V0A4
0.770
GeneticVariation
disease
BEFREE
This is the first case of dRTA with hyperammonemia in which the ATP6V0A4 mutations were identified. dRTA should be considered in the differential diagnosis of children presenting with hyperammonemia.
20221774
2010
ATP6V1B1
0.360
Biomarker
disease
BEFREE
Audiometry was performed in children with DRTA and sequencing of the ATP6V1B1 gene was done for those with sensorineural hearing loss.
20622307
2010
ATP6V0A4
0.770
GeneticVariation
disease
CLINVAR
Importance of early audiologic assessment in distal renal tubular acidosis.
23754897
2011
ATP6V0A4
0.770
GermlineCausalMutation
disease
ORPHANET
The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.
23729491
2013
ATP6V0A4
0.770
GeneticVariation
disease
BEFREE
The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.
23729491
2013
ATP6V0A4
0.770
GeneticVariation
disease
BEFREE
Mutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment.
23065636
2013
ATP6V1B1
0.360
GermlineCausalMutation
disease
ORPHANET
The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.
23729491
2013
ATP6V1B1
0.360
Biomarker
disease
BEFREE
The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.
23729491
2013
ATP6V0A4
0.770
GeneticVariation
disease
CLINVAR
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
27247958
2016