Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. | 12579397 | 2003 |
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|
0.700 | GeneticVariation | UNIPROT | Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. | 12414817 | 2002 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. | 9916796 | 1999 |