SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
Disease: Cystinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease CTD_human
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease HPO
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation disease CLINVAR We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. 10471498 1999
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease CLINGEN We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. 10471498 1999
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease UNIPROT We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. 10471498 1999
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease CLINVAR We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. 10471498 1999
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease BEFREE Recently, the role of b(o,+)AT (SLC7A9) in cystinuria (non Type I) and the role of y(+)LAT-1 (SLC7A7) in lysinuric protein intolerance have been demonstrated. 11377971 2001
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease CLINVAR 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
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease BEFREE Defects in two genes of this family (SLC3A1, encoding rBAT and SLC7A9, encoding b(o,+)AT) are responsible for cystinuria, an inherited aminoaciduria of cystine and dibasic amino acids. 11396607 2001
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease UNIPROT 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
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease BEFREE Two mutated amino acid transporter genes, however, have been recently identified as responsible for cystinuria.Mutations in the SLC3A1 gene. encoding for the heavy subunit of the transporter protein rBAT, were associated with type I cystinuria, whereas type II and III cystinuria were associated with mutations in the SLC7A9 gene, encoding for a light subunit of rBAT. 11770798 2001
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease 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
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 AlteredExpression disease BEFREE The hBAT1 gene was mapped to 19q12-13.1 on the human chromosome, which is the locus of nontype I cystinuria. hBAT1 message was expressed predominantly in kidney. hBAT1 protein was localized in the apical membrane of proximal tubules in human kidney. 11318953 2001
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease BEFREE One of the genes (SLC7A9) that causes cystinuria, an inborn error of amino acid transport, is localized to 19q13. 11509015 2001
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation disease CLINVAR 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
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease BEFREE The SLC3A1 gene coding for an amino acid transporter named rBAT is responsible for type I cystinuria, whereas the SLC7A9 gene coding for a subunit (b0,+AT) of rBAT is involved in determining non-type I (types II and III) cystinuria. 11260385 2001
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker disease CLINGEN The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit. 12234930 2002
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease UNIPROT SLC7A9 mutations in all three cystinuria subtypes. 12371955 2002
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation disease CLINVAR SLC7A9 mutations in all three cystinuria subtypes. 12371955 2002
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation disease CLINVAR Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283 2002
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease BEFREE Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283 2002
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 CausalMutation disease CLINVAR The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit. 12234930 2002
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 GeneticVariation disease UNIPROT Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283 2002