SLC11A1, solute carrier family 11 member 1, 6556

N. diseases: 141; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C1864868
Disease:
BURULI ULCER, SUSCEPTIBILITY TO
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE Three NRAMP1 polymorphisms (823C/T, D543N and 1729+55del4) were significantly associated with RA. 10719815 2000
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041234
Disease:
Chagas Disease
0.010 GeneticVariation BEFREE In the present study we investigated whether four NRAMP1 polymorphisms (5'(GT)n, -236 C-->T, D543N, and 3'UTR deletion) were important in determining the susceptibility to Trypanosoma cruzi infections as well as in the development of chagasic cardiac disease. 11380946 2001
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.100 GeneticVariation BEFREE To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G/A, A318V, D543N and 3' untranslated region [UTR]), and the susceptibility of tuberculosis and HIV infection in Taiwanese. 12019922 2002
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.100 GeneticVariation BEFREE Heterozygosity for the -1082 polymorphism of the IL-10 promoter and heterozygosity for 2 linked polymorphic NRAMP1 variants, D543N and 3' untranslated region, were associated with TB susceptibility and resistance, respectively. 12404162 2002
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.100 GeneticVariation BEFREE We investigated by polymerase chain reaction previously published Nramp1 genotypes at 4 loci-INT4, N543D, 3'UTR, and 5'(CA)(n) microsatellite markers-in 104 human immunodeficiency virus-negative patients with tuberculosis and 176 healthy control subjects living in Denmark. 12195379 2002
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C3854222
Disease:
Human immunodeficiency virus (HIV) II infection category B1
0.010 GeneticVariation BEFREE We investigated by polymerase chain reaction previously published Nramp1 genotypes at 4 loci-INT4, N543D, 3'UTR, and 5'(CA)(n) microsatellite markers-in 104 human immunodeficiency virus-negative patients with tuberculosis and 176 healthy control subjects living in Denmark. 12195379 2002
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0019693
Disease:
HIV Infections
0.010 GeneticVariation BEFREE To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G/A, A318V, D543N and 3' untranslated region [UTR]), and the susceptibility of tuberculosis and HIV infection in Taiwanese. 12019922 2002
dbSNP: rs201565523
rs201565523
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G/A, A318V, D543N and 3' untranslated region [UTR]), and the susceptibility of tuberculosis and HIV infection in Taiwanese. 12019922 2002
dbSNP: rs201565523
rs201565523
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0019693
Disease:
HIV Infections
0.010 GeneticVariation BEFREE To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G/A, A318V, D543N and 3' untranslated region [UTR]), and the susceptibility of tuberculosis and HIV infection in Taiwanese. 12019922 2002
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Patients with the D543N A allele were significantly more likely than others to develop a cavitary lesion; by logistic regression analysis with adjustment for gender, age, and presence of diabetes, the odds ratio in patients with an A allele was 5.16 (95% confidence interval, 1.30-20.45). 12799146 2003
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0032231
Disease:
Pleurisy
0.010 GeneticVariation BEFREE The frequencies of mutant genotypes of INT4 and 3'UTR were significantly high in the pleurisy group (P = 0.01, P = 0.02), but the frequencies of D543N were not significantly different between the two groups. 12729343 2003
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Patients with the D543N A allele were significantly more likely than others to develop a cavitary lesion; by logistic regression analysis with adjustment for gender, age, and presence of diabetes, the odds ratio in patients with an A allele was 5.16 (95% confidence interval, 1.30-20.45). 12799146 2003
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.090 GeneticVariation BEFREE To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci, as well as their association with severe forms of pulmonary tuberculosis, in 127 patients with active pulmonary tuberculosis and in 91 ethnically matched, healthy control subjects in areas of China where tuberculosis is endemic. 15825023 2005
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE To experimentally test the candidacy of NRAMP1 in asthma susceptibility, we characterized five genetic variants of NRAMP1 (5'CAn, 274C>T, 469+14G>C, D543N, and 1729+del4) in an asthma family-based cohort from northeastern Quebec. 15988535 2005
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0024115
Disease:
Lung diseases
0.010 GeneticVariation BEFREE Heterozygotes at intron 4 (469 + 14G/C) [INT4], codon 543 in exon 15 (D543N</span>), and 3' untranslated region (3'UTR) were observed at significantly higher frequencies in patients with NTM lung disease than in control subjects. 16002921 2005
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.090 GeneticVariation BEFREE INT4-D543N-3'UTR haplotypes showed an association with pulmonary TB (P=0.03). 16461017 2006
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0085568
Disease:
Buruli Ulcer
0.020 GeneticVariation BEFREE D543N was significantly associated with Buruli ulcer: the odds ratio (adjusted for gender, age, and region of the participant) of the GA genotype versus the GG genotype was 2.89 (95% confidence intervals (CI): 1.41-5.91). 16395392 2006
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0004943
Disease:
Behcet Syndrome
0.020 GeneticVariation BEFREE In addition, the distributions of genotypes and alleles of D543N were similar between BD patients and controls (p>0.05). 17062442 2006
dbSNP: rs201565523
rs201565523
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0004943
Disease:
Behcet Syndrome
0.010 GeneticVariation BEFREE Analyses of three polymorphisms of the SLC11A1 gene [the 5'-promoter (GT)n, D543N and A318V] were performed, either by denaturing high-performance liquid chromatography for D543N and A318V or by using automatic DNA sequencing for the (GT)n. The genotypes and alleles between patients with BD and the controls were compared using the chi2 test and Yate's correction test. 17062442 2006
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.100 GeneticVariation BEFREE To explore the potential role of these genes in the susceptibility to pulmonary tuberculosis in a Mexican mestizo population, we evaluated the association of D543N and 3'-UTR polymorphisms in NRAMP1/SLC11 A1 and - 762 and A1513C polymorphisms in P2X(7) genes with the risk for tuberculosis. 17493019 2007
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.100 GeneticVariation BEFREE The distribution of three polymorphisms in the natural resistance-associated macrophage protein gene (NRAMP1) including INT4, D543N and 3'UTR was examined for a possible association with susceptibility to TB. 17466092 2007
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.090 GeneticVariation BEFREE No association of other polymorphisms (NRAMP1 D543N, TNF-alpha-308) and susceptibility to silicosis or PTB in Chinese miners was found. 17223386 2007
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.090 GeneticVariation BEFREE To explore the potential role of these genes in the susceptibility to pulmonary tuberculosis in a Mexican mestizo population, we evaluated the association of D543N and 3'-UTR polymorphisms in NRAMP1/SLC11 A1 and - 762 and A1513C polymorphisms in P2X(7) genes with the risk for tuberculosis. 17493019 2007
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0240066
Disease:
Iron deficiency
0.010 GeneticVariation BEFREE Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of anaemia in tuberculosis in the Indonesian population. 17466092 2007