| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 |