Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
0.770 Biomarker disease CTD_human
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
0.770 CausalMutation disease CLINVAR
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
0.770 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
0.770 GeneticVariation disease CLINVAR Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. 27247958 2016
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
0.770 GeneticVariation disease CLINVAR Importance of early audiologic assessment in distal renal tubular acidosis. 23754897 2011
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
0.770 GeneticVariation disease CLINVAR Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis. 26208211 2016
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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
Entrez Id: 50617
Gene Symbol: ATP6V0A4
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: 50617
Gene Symbol: ATP6V0A4
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