SLC9A3, solute carrier family 9 member A3, 6550

N. diseases: 58; N. variants: 4
Disease: Congenital secretory diarrhea, sodium type (disorder) ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.720 GeneticVariation disease BEFREE Congenital Sodium Diarrhea (CSD) due to SLC9A3 mutation is a rare cause of neonatal diarrhea explained by dysfunction of the Na+/H+ antiporter 3 in intestine. 31276831 2019
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.720 GeneticVariation disease BEFREE This study identifies recessive mutations in NHE3, a downstream target of GC-C, as a cause of CSD and implies primary basal NHE3 malfunction as a predisposition for IBD in a subset of patients. 26358773 2015