Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. | 17661077 | 2008 |
||||
|
0.700 | GeneticVariation | UNIPROT | Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). | 16636648 | 2006 |
||||
|
0.700 | GeneticVariation | UNIPROT | Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. | 15930088 | 2005 |
||||
|
0.700 | GeneticVariation | UNIPROT | Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. | 15713912 | 2005 |
||||
|
0.700 | GeneticVariation | UNIPROT | A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. | 15471865 | 2004 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. | 10545938 | 1999 |