| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | CLINGEN | Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts. | 28934385 | 2017 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. | 28233610 | 2017 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. | 18798332 | 2008 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. | 12579397 | 2003 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. | 12414817 | 2002 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. | 9916796 | 1999 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. | 9916796 | 1999 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. | 9916796 | 1999 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.100 | GeneticVariation | disease | CLINVAR | The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. | 28233610 | 2017 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. | 18798332 | 2008 |