ATP6V0A4
0.770
Biomarker
disease
CTD_human
ATP6V0A4
0.770
CausalMutation
disease
CLINVAR
ATP6V0A4
0.770
Biomarker
disease
GENOMICS_ENGLAND
ATP6V1B1
0.360
GeneticVariation
disease
BEFREE
Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis.
29202719
2017
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:
2299
Gene Symbol:
FOXI1
FOXI1
0.300
GermlineCausalMutation
disease
ORPHANET
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
29242249
2018
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
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
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
CLINVAR
Importance of early audiologic assessment in distal renal tubular acidosis.
23754897
2011
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
×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
0.030
GeneticVariation
disease
BEFREE
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1 ) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis .
30124986
2019
ATP6V0A4
0.770
GeneticVariation
disease
CLINVAR
Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.
29311258
2018
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
GeneticVariation
disease
CLINVAR
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
27247958
2016
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
GeneticVariation
disease
BEFREE
Mutations in the vacuolar-type H(+)-ATPase B1 subunit gene ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA ).
26453614
2016
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
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
×
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
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