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 		0.170 GeneticVariation phenotype BEFREE ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. 31733597 2020
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.170 GeneticVariation phenotype BEFREE Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. 22509993 2013
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.170 GeneticVariation phenotype BEFREE RTA due to ATP6V1B1 mutations is associated with mild progressive loss of kidney function. 21849803 2011
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.170 GeneticVariation phenotype LHGDN Distal renal tubular acidosis (RTA) with nerve deafness is caused by mutations in the ATP6V1B1 gene causing defective function of the H+ -ATPase proton pump. 17216496 2007
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.170 GeneticVariation phenotype BEFREE The hearing loss may thus be paralleled by various renal phenotypes including a subtle decrease of proximal Na(+)-coupled transport (KCNE1/KCNQ1), impaired K(+) secretion (KCNMA1), limited HCO(3)(-) elimination (SLC26A4), NaCl wasting (BSND and CLCNKB), renal tubular acidosis (ATP6V1B1, ATPV0A4, and KCC4), or impaired urinary concentration (CLCNKA). 17670895 2007
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.170 GeneticVariation phenotype BEFREE Distal renal tubular acidosis (RTA) with nerve deafness is caused by mutations in the ATP6V1B1 gene causing defective function of the H+ -ATPase proton pump. 17216496 2007
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.170 GeneticVariation phenotype BEFREE Although a single case report, this is the second report documenting ATP6B1 mutations in recessive distal RTA with sensorineural hearing loss after the original report by Karet et al and confirms the novelty of these mutations. 12500243 2003
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.170 GeneticVariation phenotype BEFREE Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA with ocular abnormalities; in the gene SLC4A1, encoding Cl(-)-HCO3- exchanger (AE1), in autosomal dominant distal RTA; in the gene ATP6B1, encoding B1 subunit of H+-ATPase, in autosomal recessive distal RTA with sensorineural deafness; and in the gene CA2, encoding carbonic anhydrase II, in autosomal recessive osteopetrosis. 11045400 2000
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.170 Biomarker phenotype HPO