Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria. 28049243

2017
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721

2015
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Molecular characterization of cystinuria in south-eastern European countries. 23532419

2013
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype. 18332091

2008
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype. 18332091

2008
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria. 16374432

2006
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Mutation analyses of SLC7A9 and SLC3A1 genes were performed on 41 cystinuria patients. 16609684

2006
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. 16138908

2005
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. 12915471

2003
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN A mouse model for cystinuria type I. 12923163

2003
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit. 12234930

2002
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Here we describe the genomic structure of SLC7A9 (13 exons) and 28 new mutations in this gene that, together with the seven previously reported, explain 79% of the alleles in 61 non-Type I cystinuria patients. 11157794

2001
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. 11129328

2000
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. 10471498

1999
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN We investigated 20 cystinuria patients from Quebec (8 Type I/I, 9 Type I/III and 3 Type II/N) for mutations in SLC3A1. 9648062

1998
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. 8792820

1996
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. 8054986

1994
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CLINGEN Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. 8486766

1993