Source: CLINVAR

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 GeneticVariation CLINVAR Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. 28717662

2017
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon. 28646536

2017
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation CLINVAR The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter. 26537754

2016
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309

2015
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721

2015
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309

2015
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation CLINVAR The genetic diversity of cystinuria in a UK population of patients. 25109415

2015
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Molecular characterization of cystinuria in south-eastern European countries. 23532419

2013
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation CLINVAR Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit. 22493502

2012
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. 21255007

2012
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes. 21677404

2011
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation CLINVAR Pathophysiology and treatment of cystinuria. 20517292

2010
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR An antenatal hyper-echogenic colon: question. 18704508

2009
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR Type I cystinuria and its genetic basis in a population of Turkish school children. 17880288

2007
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Analysis of a 1-year-old cystinuric patient with recurrent renal stones. 17010017

2006
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Identification of novel cystinuria mutations in pediatric patients. 18947684

2006
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes. 15691362

2005
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation CLINVAR New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077

2005
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. 16138908

2005
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077

2005
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients. 16225397

2005
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. 14991253

2004
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283

2002
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation CLINVAR We have screened the entire coding sequence and the intron/exon boundaries of the SLC3A1 gene in 53 cystinuria patients by means of single strand conformation polymorphism (SSCP) and DNA sequencing. 11748844

2001