Gene: ATP6V1B1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Our study indicates the importance contribution of ATP6V1B1 gene mutations to the pathogenesis of the dRTA in the Algerian population and will contribute to introducing principles to predict the characteristics of the dRTA in patients. 31733597 2020
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Hereditary forms of distal renal tubular acidosis (dRTA) are rare and mainly caused by mutations in ATP6V1B1, ATP6V0A4 and SLC4A1. 30554219 2019
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE In this report, we propose first line genetic testing based on screening of these two mutations both located in exon 12 of ATP6V1B1 gene in Moroccan patients with recessive form of dRTA associated to precocious hearing loss. 27140593 2018
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE The patient is a heterozygote for two different mutations, one in each of the genes ATP6V0A4 and ATP6V1B1, while no deleterious variation was detected in the remaining genes responsible for the recessive form of dRTA. 29024829 2018
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Twenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene. 29725771 2018
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Homozygous mutations or deletion of the ATP6V1B1 gene encoding for the B1 subunit of the vacuolar H+-ATPase leads to distal renal tubular acidosis in man and mice. 29843146 2018
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Progressive sensorineural hearing loss develops in the majority of patients with recessive dRTA (ATP6V1B1 and ATP6V0A4 mutations). 28994037 2018
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE We described two novel dRTA associated mutations in ATP6V1B1 identified in a Chinese child patient accompanying with SNHL and EVA. 30558562 2018
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. 28934385 2017
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Primary distal renal tubular acidosis (DRTA) is a rare disease caused by loss-of-function mutations in at least three genes (ATP6V0A4, ATP6V1B1, and SLC4A1) involved in urinary distal acidification. 26571219 2016
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE The genomic deletion reported here is firstly, the only reported example of a whole gene deletion to underlie Distal Renal Tubular Acidosis, where the clinical phenotype is indistinguishable from that of other patients with ATP6V1B1 mutations; secondly, this is the first reported example of a human VAX2 mutation and associated ocular phenotype, supporting speculation in the literature that VAX2 is important for correct retinal functioning. 26068435 2015
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE These results conclusively explain these mutations in ATP6V1B1 gene resulted in structural changes causing accumulation of H(+) ions contributing to dRTA with sensorineural deafness. 25517796 2015
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE ATP6V1B1 and ATP6V0A4 genetic mutations cause recessive forms of distal renal tubular acidosis. 25498251 2014
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Our study shows that rare and family-specific variants in ATP6V1B1 are responsible for DRTA and sensorineural hearing loss syndrome in Turkey. 23923981 2013
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 Biomarker disease BEFREE Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis. 23729491 2013
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status. 24252324 2013
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Mutations in ATP6V1B1, encoding the B-subtype unit of the apical H(+) ATPase, and ATP6V0A4, encoding the a-subtype unit, lead to the loss of function of the apical H(+) ATPase and are usually responsible for patients with autosomal recessive dRTA often associated with early or late sensorineural deafness. 23114896 2012
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis. 20805693 2011
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss. 20233014 2010
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Mutations in ATP6V1B1 are associated with early onset SNHL, whereas ATP6V0A4 mutations have been described in dRTA and late-onset SNHL. 19639346 2009
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE A homozygous mutation in the ATP6V1B1 gene, which is responsible for dRTA with early hearing loss, was detected in both siblings. 18386070 2008
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Several types of mutations in the ATP6V1B1 gene may cause distal renal tubular acidosis and sensorineural hearing loss. 17669226 2008
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Our report shows that hearing loss is not always present in the syndrome of distal renal tubular acidosis with nerve deafness and the absence of hypercalciuria at diagnosis and describes a new mutation responsible for the disease in the ATP6V1B1 gene. 17216496 2007
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. 12500243 2003
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.400 GeneticVariation disease BEFREE Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397 2003