|
Rheumatoid Arthritis
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Rheumatoid Arthritis
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Crohn Disease
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Vasculitis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital neurologic anomalies
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Abnormality of blood and blood-forming tissues
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the respiratory system
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the immune system
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Trophoblastic Tumor, Placental Site
|
0.010 |
Biomarker
|
disease |
BEFREE |
Placental site trophoblastic tumor [PSTT] and epithelioid trophoblastic tumor [ETT] are the rarest gestational trophoblastic neoplasias, developing from intermediate trophoblast of the implantation site and chorion leave, respectively.
|
31047719 |
2019 |
|
leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
SLC22A4 is an organic cation transporter with unknown physiological function, and RUNX1 is a hematological transcriptional regulator that has been shown to be responsible for acute myelogenic leukemia.
|
15184985 |
2004 |
|
Childhood Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
SLC22A4 is an organic cation transporter with unknown physiological function, and RUNX1 is a hematological transcriptional regulator that has been shown to be responsible for acute myelogenic leukemia.
|
15184985 |
2004 |
|
Rheumatoid Arthritis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SLC22A4 polymorphism and rheumatoid arthritis susceptibility: a replication study in a Japanese population and a metaanalysis.
|
18709696 |
2008 |
|
Crohn Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
OCTN1 expression was higher in Crohn's disease patients with mutant homozygous or heterozygous genotypes (0.6% ± 0.1 vs 3% ± 0.8, resp., p<0.02).
|
22325173 |
2012 |
|
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
L503F in SLC22A4 was the only nonsynonymous SNP significantly associated with CD (P=0.003), but was not associated with disease in the absence of other markers of the 250 kb risk haplotype.
|
16724073 |
2006 |
|
Glomerular Filtration Rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
|
31152163 |
2019 |
|
Nasal Polyps
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.
|
30643255 |
2019 |
|
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A major role in adult Crohn's disease (CD) has been defined for 3 polymorphisms in the CARD15 gene, whereas variants in the SLC22A4, SLC22A5, and DLG5 genes could have a minor contribution to IBD susceptibility.
|
16670523 |
2006 |
|
Fibrinogen assay
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
|
26561523 |
2016 |
|
Ulcerative Colitis
|
0.100 |
Biomarker
|
disease |
BEFREE |
A statistically significant increase in the risk of UC was detected in a recessive model of inheritances for OCTN1 (OR = 1.23, 95% CI = 1.08-1.40, P < 0.001), OCTN2 (OR = 1.18, 95% CI = 1.05-1.33, P = 0.006), IGR2096a_1 (OR = 1.37, 95% CI = 1.15-1.62, P < 0.001) and IGR2198a_1 (OR = 1.35, 95% CI = 1.10-1.66, P = 0.004); the increased risks of UC were maintained in the adult and Caucasian subgroups, but not the pediatric subgroup.
|
21279723 |
2011 |
|
Inflammatory Bowel Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A total of 1104 unrelated Caucasian subjects with inflammatory bowel disease (IBD) (496 CD, 512 UC, 96 indeterminate) and 750 ethnically matched controls were genotyped for three single nucleotide polymorphisms (SNPs) in the CD associated genes (OCTN1+1672, OCTN2-207, and IGR2230), and two flanking IBD5 tagging SNPs, IGR2096 and IGR3096.
|
16361305 |
2006 |
|
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A total of 1104 unrelated Caucasian subjects with inflammatory bowel disease (IBD) (496 CD, 512 UC, 96 indeterminate) and 750 ethnically matched controls were genotyped for three single nucleotide polymorphisms (SNPs) in the CD associated genes (OCTN1+1672, OCTN2-207, and IGR2230), and two flanking IBD5 tagging SNPs, IGR2096 and IGR3096.
|
16361305 |
2006 |
|
Superficial ulcer
|
0.010 |
Biomarker
|
disease |
BEFREE |
Accordingly, SLC22A4 was associated with joint erosion in not-very-longstanding RA, although RA susceptibility association was weak and its clinical significance was uncertain.
|
25707686 |
2015 |
|
Skin Erosion
|
0.010 |
Biomarker
|
disease |
BEFREE |
Accordingly, SLC22A4 was associated with joint erosion in not-very-longstanding RA, although RA susceptibility association was weak and its clinical significance was uncertain.
|
25707686 |
2015 |
|
Rheumatoid Arthritis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Accordingly, SLC22A4 was associated with joint erosion in not-very-longstanding RA, although RA susceptibility association was weak and its clinical significance was uncertain.
|
25707686 |
2015 |
|
Crohn Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Allele frequencies of the OCTN1/2 variants were significantly higher in IBD/CD cases (p<0.04).
|
16469794 |
2006 |