Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 525
Gene Symbol: ATP6V1B1
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
Entrez Id: 525
Gene Symbol: ATP6V1B1
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
Entrez Id: 525
Gene Symbol: ATP6V1B1
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: 525
Gene Symbol: ATP6V1B1
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
Entrez Id: 525
Gene Symbol: ATP6V1B1
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
Entrez Id: 525
Gene Symbol: ATP6V1B1
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
Entrez Id: 525
Gene Symbol: ATP6V1B1
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