SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
Disease: Cystinuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. 19782624 2010
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes. 18752446 2008
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. 16609684 2006
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. 16138908 2005
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077 2005
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Mutation analysis of SLC7A9 in cystinuria patients in Sweden. 12820697 2003
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283 2002
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT SLC7A9 mutations in all three cystinuria subtypes. 12371955 2002
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 11157794 2001
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. 10471498 1999
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 CausalMutation CLINVAR