SLC3A2, solute carrier family 3 member 2, 6520

N. diseases: 108; N. variants: 2
Disease: Cystinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.010 GeneticVariation disease BEFREE Mutations in system b(0,+) (rBAT-b(0,+)AT) and in system y(+)L (4F2hc-y(+)LAT1) cause the primary inherited aminoacidurias (PIAs) cystinuria and lysinuric protein intolerance, respectively. 15772300 2005