SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
Disease: Cystinuria, Type B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857389
Disease: Cystinuria, Type B
Cystinuria, Type B 		0.330 GeneticVariation disease BEFREE No significant clinical differences were detected in this study between type A (SLC3A1 variants) and type B cystinuria (SLC7A9 variant). 28166740 2017
CUI: C1857389
Disease: Cystinuria, Type B
Cystinuria, Type B 		0.330 GermlineCausalMutation disease ORPHANET Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. 21255007 2012
CUI: C1857389
Disease: Cystinuria, Type B
Cystinuria, Type B 		0.330 GeneticVariation disease BEFREE Patients with two SLC3A1 mutations are classified as type A cystinuria, whereas patients with two SLC7A9 mutations are classified as type B cystinuria. 16374432 2006
CUI: C1857389
Disease: Cystinuria, Type B
Cystinuria, Type B 		0.330 GeneticVariation disease BEFREE Mutations in rBAT cause cystinuria type A, whereas mutations in b(0,+)AT cause cystinuria type B. b(0,+)AT is the catalytic subunit, whereas it is believed that rBAT helps the routing of the rBAT/b(0,+)AT heterodimeric complex to the plasma membrane. 14561219 2004