SLC3A1, solute carrier family 3 member 1, 6519

N. diseases: 84; N. variants: 54
Disease: Cystinuria, type 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268645
Disease: Cystinuria, type 3
Cystinuria, type 3 		0.010 GeneticVariation disease BEFREE To assess whether mutations in SLC3A1 are involved in different cystinuria phenotypes, linkage with this gene and its nearest marker (D2S119) was analyzed in 22 families with type I and/or type III cystinuria. 7568194 1995