rs745319034, SLC7A9

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystinuria
CUI: C0010691
Disease: Cystinuria
0.700 CausalMutation CLINVAR Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721 2015
Cystinuria
CUI: C0010691
Disease: Cystinuria
0.700 CausalMutation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309 2015
Cystinuria
CUI: C0010691
Disease: Cystinuria
0.700 CausalMutation CLINVAR Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. 21255007 2012
Cystinuria
CUI: C0010691
Disease: Cystinuria
0.700 CausalMutation CLINVAR New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077 2005
Cystinuria
CUI: C0010691
Disease: Cystinuria
0.700 CausalMutation CLINVAR SLC7A9 mutations in all three cystinuria subtypes. 12371955 2002