SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Disease: Abnormality of dental enamel ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.010 GeneticVariation group BEFREE Extrapolating these data to humans, our findings suggest that in patients with NBCe1 mutations, correction of the systemic metabolic acidosis at a sufficiently early time point may lead to amelioration of enamel abnormalities. 24828138 2014