SLC12A1, solute carrier family 12 member 1, 6557

N. diseases: 87; N. variants: 29
Disease: Bartter syndrome, type 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		0.010 GeneticVariation disease BEFREE Classic Bartter syndrome is due to a mutation in the gene encoding the chloride channel (CLCNKB), also a regulator of NKCC2, and typically presents in infancy or early childhood with failure to thrive. 11780689 2001