SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023343
Disease: Leprosy
Leprosy 		0.020 GeneticVariation disease BEFREE Nine SNPs located in BAT1, LTA, TNF genes and BTNL2-DRA interval showed strong association with leprosy susceptibility in two independent sets of North Indian population which was replicated in a geographically distinct East Indian population. 22071774 2012
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.020 GeneticVariation disease BEFREE For example, common variants in the UMOD and PRKAG2 genes are associated with risk of chronic kidney disease; variants in CLDN14 with risk of kidney stone disease; and variants in or near SHROOM3, STC1, LASS2, GCKR, NAT8/ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, FAM122A/PIP5K1B, ATXN2, DACH1, UBE2Q2/FBXO22, and SLC7A9, with differences in glomerular filtration rate. 20728256 2010
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.020 GeneticVariation disease BEFREE Cystinuria is an autosomal recessive disease that is manifested by kidney stones and is caused by mutations in two genes: SLC3AI on chromosome 2p and SLC7A9 on chromosome 19q. 17710781 2007
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 GeneticVariation disease BEFREE DNA samples from healthy donors were used to confirm haplotypic associations with the type 1 diabetes-susceptible 8.1 ancestral haplotype (AH; HLA-A1,B8,BAT1-22*C,BAT1-348*C,DR3 ) and the diabetes-resistant 7.1 AH (HLA-A3,B7,BAT1-22*G,BAT1-348*T,DR15). 15028669 2004
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 Biomarker disease BEFREE BAT1 belongs to the DEAD-box family of proteins, and is encoded in the central region of the MHC, a region containing genes affecting immunopathological disorders including Type 1 diabetes. 12653967 2003
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 Biomarker disease BEFREE The role of BAT1 in the regulation of tumor necrosis factor-a suggests that BAT1 may regulate the inflammatory response observed in patients with RA. 18381799 2008
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 GeneticVariation disease BEFREE The most abundant 9-marker haplotype of the BAT1-NFKBIL1-LTA region, named haplotype 1 (28% frequency in the study population), included the alleles of the five protective genotypes and was related with a significantly lower risk of myocardial infarction (OR 0.88, 95% CI 0.80-0.98; P = 0.015). 17517687 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 AlteredExpression disease BEFREE Overexpression of BAT1 mRNA was associated with carriers of a haplotype containing the LST1 marker transmitted to RA cases in a family study and also DRB1(*)15 associated with susceptibility to nephritis in systemic lupus erythematosus. 16971954 2006
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 GeneticVariation disease BEFREE Multiple single-nucleotide polymorphisms in the BAT1-NFKBIL1-LTA region on the short arm of chromosome 6 have been found to be associated with susceptibility to myocardial infarction in a recent case-control study including individuals from Japan. 15843211 2005
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 Biomarker disease BEFREE Subsequent linkage-disequilibrium (LD) mapping and analyses of haplotype structure showed significant associations between myocardial infarction and a single 50 kb halpotype comprised of five SNPs in LTA (encoding lymphotoxin-alpha), NFKBIL1 (encoding nuclear factor of kappa light polypeptide gene enhancer in B cells, inhibitor-like 1) and BAT1 (encoding HLA-B associated transcript 1). 12426569 2002
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 Biomarker disease BEFREE In this critical segment, four expressed genes have been thus far identified, NFKBIL1 (IkappaBL), ATP6G, BAT1, and MICB, all of which are candidate genes for determining susceptibility to RA. 11170743 2001
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.100 GeneticVariation phenotype GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.100 GeneticVariation phenotype GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.100 GeneticVariation disease GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146 2010
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.100 GeneticVariation phenotype GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146 2010
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		0.100 GeneticVariation disease BEFREE Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. 20052367 2010
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		0.100 GeneticVariation disease BEFREE Most mutations in the rBAT subunit of the heterodimeric cystine transporter rBAT-b(0,+)AT cause type I cystinuria. 18332091 2008
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		0.100 GeneticVariation disease BEFREE Mutations in the rBAT and b(0,+)AT genes cause type I and non-type I cystinuria, respectively. 12167606 2002