Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
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
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
0.440 Biomarker disease CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
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
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
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
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
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
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
0.440 Biomarker disease HPO