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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE In this article, we describe the biological evaluation of a new CXCR4-targeting and -antagonizing molecule (BAT1) that we designed and show that, when incorporated into a liposomal drug delivery system, it can be used to deliver cancer therapeutics at high levels to chronic lymphocytic leukemia (CLL) cells. 31292126 2019
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.010 Biomarker group BEFREE The combined capabilities to block CXCL12-induced migration and intracellular signaling while simultaneously delivering therapeutic cargo mean that the BAT1-liposome drug-delivery system could be a timely and relevant treatment of a range of hematological disorders, particularly because the therapeutic cargo can be tailored to the disease being treated. 31292126 2019
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 Biomarker disease BEFREE Specific uptake of BAT1-liposomes and delivery of a therapeutic cargo to the cell nucleus was seen within 3 hours of incubation and induced significantly more CLL cell death after 24 hours than control liposomes (<i>P</i> = .004). 31292126 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE In this article, we describe the biological evaluation of a new CXCR4-targeting and -antagonizing molecule (BAT1) that we designed and show that, when incorporated into a liposomal drug delivery system, it can be used to deliver cancer therapeutics at high levels to chronic lymphocytic leukemia (CLL) cells. 31292126 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.010 GeneticVariation group BEFREE Only BAT1 rs3853601 -22G carriers (B1 vs. C: OR = 0.5; p-value = 0.03) and IFNG rs2430561 +874AT (A vs. C: OR = 0.7; p-value = 0.03; A vs. B1+C: OR = 0.8; p-value = 0.02) showed a significant association with protection from cardiopathy in a logistic regression analysis with adjustment for gender and ethnicity; however, the association disappeared after performing adjustment for multiple testing. 29768622 2018
CUI: C0024788
Disease: Marburg Virus Disease
Marburg Virus Disease
0.010 Biomarker disease BEFREE Transcriptomics Reveal Antiviral Gene Induction in the Egyptian Rousette Bat Is Antagonized In Vitro by Marburg Virus Infection. 30400182 2018
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases
0.010 Biomarker group BEFREE Here we examined whether the risk haplotype of MHC class III region BAT1-NFKBIL1-LTA and lymphotoxin-α polymorphisms associate with salivary biomarkers of periodontal disease. 30176756 2018
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.010 Biomarker disease BEFREE We have identified 18 SNPs in nine genes in the HLA region (NFKBIL1, TNF-α, ATP6V1G2-DDX39B, MSH5, MICA, LTA, BAT1, and NOTCH4) and in the psoriasis susceptibility region of HLA-C as potential candidates for association with DOX cardiotoxicity. 28256194 2017
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 GeneticVariation disease BEFREE We identified a novel BAT1-NFKBIL1-LTA haplotype as a significant contributor to the risk of periodontitis. 24566624 2014
CUI: C0004134
Disease: Ataxia
Ataxia
0.010 GeneticVariation phenotype 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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 GeneticVariation phenotype 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: C0497169
Disease: hiv-infection/aids
hiv-infection/aids
0.010 Biomarker disease BEFREE A meta-analysis of our genomic data combined with data from the previously conducted Euro-CHAVI (Center for HIV/AIDS Vaccine Immunology) GWAS confirmed the HCP5 signal (P=3.02x10(-19)) and identified several new associations, all of them involving HLA genes: MICB, TNF, RDBP, BAT1-5, PSORS1C1, and HLA-C. 19115949 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Semi-quantitative RT-PCR was also performed for BAT1 from RNA isolated from brain tissue from AD and control cases. 18715507 2008
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.010 Biomarker disease BEFREE BAT1 (intron 10)*2 was more common in NRTI-SN than resistant patients, but neither group differed from controls. 18240960 2008
CUI: C0007930
Disease: Chagas Cardiomyopathy
Chagas Cardiomyopathy
0.010 Biomarker disease BEFREE BAT1, a putative anti-inflammatory gene, is associated with chronic Chagas cardiomyopathy. 16619187 2006
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 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: C0027697
Disease: Nephritis
Nephritis
0.010 GeneticVariation 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: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 GeneticVariation disease BEFREE The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy. 16101831 2005
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation disease BEFREE Sections of the BAT1 promoter region were amplified from cells homozygous for the MHC haplotypes associated with susceptibility (HLA-A1, B8, DR3; 8.1 haplotype) and resistance (HLA-A3, B7, DR15; 7.1 haplotype) to diabetes and cloned into a promoter-less luciferase-encoding plasmid. 12653967 2003
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation group BEFREE Sections of the BAT1 promoter region were amplified from cells homozygous for the MHC haplotypes associated with susceptibility (HLA-A1, B8, DR3; 8.1 haplotype) and resistance (HLA-A3, B7, DR15; 7.1 haplotype) to diabetes and cloned into a promoter-less luciferase-encoding plasmid. 12653967 2003
CUI: C0268647
Disease: Lysinuric Protein Intolerance
Lysinuric Protein Intolerance
0.010 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: C3698119
Disease: Inherited aminoaciduria
Inherited aminoaciduria
0.010 Biomarker group 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 GeneticVariation group BEFREE Ancestral haplotypes carry haplotypic and haplospecific polymorphisms of BAT1: possible relevance to autoimmune disease. 1352699 1992
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.010 GeneticVariation disease BEFREE The frequency of the BAT1 B allelic pattern is increased in patients with MG (n = 16) compared to an equal number of control subjects. 1352699 1992
CUI: C0023343
Disease: Leprosy
Leprosy
0.020 Biomarker disease BEFREE Interaction analysis between PARK2 and significant SNPs of anti-inflammatory/proinflammatory cytokine genes, including BAT1 to BTNL2-DR spanning the HLA (6p21.3) region in a case-control comparison, showed that the combined analysis of: (1) PARK2, tumour necrosis factor (TNF), BTNL2-DR, interleukin (IL)-10, IL-6 and TGFBR2 increased the risk towards leprosy (OR=2.54); (2) PARK2, BAT1, NFKBIL1, LTA, TNF-LTB, IL12B and IL10RB provided increased protection (OR=0.26) in comparison with their individual contribution. 24578538 2014