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 |
BEFREE |
We investigated a sporadic case of dRTA with a compound heterozygous mutation in the ATP6V0A4 gene, revealed by next generation sequencing.
|
29202719 |
2017 |
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 |
CLINVAR |
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.
|
26208211 |
2016 |
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 |
ATP6V0A4
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Importance of early audiologic assessment in distal renal tubular acidosis.
|
23754897 |
2011 |
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 |
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 |
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 |
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 |
BEFREE |
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.
|
10577919 |
1999 |
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 |
Mutations in the vacuolar-type H(+)-ATPase B1 subunit gene ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA).
|
26453614 |
2016 |
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 |
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 |