Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.440 | Biomarker | disease | BEFREE | Mutations in the electrogenic Na(+)/HCO3(-) cotransporter (NBCe1) that cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts in patients are recessive. | 24477681 | 2014 | ||||
|
0.440 | Biomarker | disease | CTD_human | G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. | 18614622 | 2008 | ||||
|
0.440 | GeneticVariation | disease | BEFREE | We identified a novel, homozygous, missense SLC4A4 mutation (Leu522Pro in kNBCe1) in our patient who had pRTA, short stature, enamel hypoplasia, and bilateral ocular disease (cataract, glaucoma, and band keratopathy). | 16636648 | 2006 | ||||
|
0.440 | GeneticVariation | disease | BEFREE | Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S. H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.Genet.23, 264-266). | 15471865 | 2004 | ||||
|
0.440 | GeneticVariation | disease | BEFREE | Proximal renal tubular acidosis associated with ocular abnormalities such as band keratopathy, glaucoma, and cataracts is caused by mutations in the Na(+)-HCO(3)(-) cotransporter (NBC-1). | 11435462 | 2001 | ||||
|
0.440 | Biomarker | disease | HPO |