SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.430 GeneticVariation disease BEFREE Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations. 29671668 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.430 GeneticVariation disease BEFREE We performed direct nucleotide sequencing analysis of exons and exon-intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. 29914390 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.430 Biomarker disease CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.430 Biomarker disease BEFREE A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. 15471865 2004
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.430 Biomarker disease HPO