SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Disease: Corneal calcification ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0853954
Disease: Corneal calcification
Corneal calcification 		0.010 GeneticVariation phenotype BEFREE Mutations in the gene encoding the Na+/HCO3- cotransporter, NBC1, have recently been identified in proximal renal tubular acidosis with corneal calcification. 10990375 2000