|
Abnormality of blood and blood-forming tissues
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the immune system
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the respiratory system
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acylcarnitines measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.
|
26068415 |
2015 |
|
Aortic Valve Stenosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Echocardiography and ETT (modified Bruce) were performed at presentation in 316 patients with moderate or severe AS.
|
31813683 |
2020 |
|
Arthritis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We show that expression of SLC22A4 is specific to hematological and immunological tissues and that SLC22A4 is also highly expressed in the inflammatory joints of mice with collagen-induced arthritis.
|
14608356 |
2003 |
|
Asthma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In addition, although the mechanism is not clear, single nucleotide polymorphisms of OCTN1 and OCTN2 genes are associated with increased incidences of rheumatoid arthritis, Crohn's disease and asthma.
|
22952014 |
2013 |
|
Autoimmune Diseases
|
0.050 |
Biomarker
|
group |
BEFREE |
Although the association of RUNX1 with RA was identified as a regulatory factor of SLC22A4, it is possible that RUNX1 is a key molecule in autoimmunity, as it has been reported to be associated with systemic lupus erythematosus and psoriasis, two other autoimmune diseases.
|
15184985 |
2004 |
|
Autoimmune Diseases
|
0.050 |
Biomarker
|
group |
BEFREE |
Single nucleotide polymorphisms (SNPs) of Solute carrier family 22, member 4 (SLC22A4) have been shown to be associated with several autoimmune diseases, including Crohn's disease (CD) and rheumatoid arthritis (RA).
|
26329403 |
2015 |
|
Autoimmune Diseases
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases.
|
16249223 |
2006 |
|
Autoimmune Diseases
|
0.050 |
GeneticVariation
|
group |
BEFREE |
On the other hand, the functions of SLC22A4/A5 have not been studied in detail, but SLC22A4/A5 have been reported to have multiple polymorphisms associated with several autoimmune diseases.
|
16271291 |
2005 |
|
Autoimmune Diseases
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Several multiple, large-scale, genetic studies on autoimmune-disease-associated SNPs have been reported recently: peptidylarginine deiminase type 4 (PADI4) in rheumatoid arthritis (RA); solute carrier family 22 members 4 and 5 (SLC22A4 and 5) in RA and Crohn's disease (CD); programmed cell death 1 (PDCD1) in systemic lupus erythematosus (SLE), type 1 diabetes mellitus (T1D), and RA; and protein tyrosine phosphatase nonreceptor type 22 (PTPN22) in T1D, RA, and SLE.
|
15883854 |
2005 |
|
Autoimmune thyroid disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population.
|
26329403 |
2015 |
|
Behcet Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
In conclusion, this study suggests that JAK1, but not SLC22A4, SLC22A5 and RUNX1, contributes to the genetic susceptibility to Behcet's disease with ocular involvement.
|
23674219 |
2013 |
|
Blood basophil count (lab test)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Breast Carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
|
Carditis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Selective regulation of cardiac organic cation transporter novel type 2 (OCTN2) in dilated cardiomyopathy.
|
21641380 |
2011 |
|
Celiac Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Haplotype variation at the IBD5/SLC22A4 locus (5q31) in coeliac disease in the Irish population.
|
15245375 |
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 |
|
Choriocarcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Five of 11 (45%) patients with PSTT/ETT presenting ≥48 months after antecedent pregnancy and 6 of 14 (43%) patients with refractory choriocarcinoma were in remission.
|
30731277 |
2019 |
|
Choriocarcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Studies in choriocarcinoma BeWo cells and human placenta-derived models confirmed predominant expression and function of OCTN2 above OCTN1 in l-carnitine transport.
|
30735677 |
2019 |
|
Colorectal Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Other studies have found that mutation of rs1143627 of IL1B (allelic model: OR 2.97; 95% CI 1.74-5.05, P < 0.001) and rs1050152 of OCTN1 (allelic model: OR 1.637, 95% CI 1.078-2.485, P = 0.021) increased the proportion of IBD-associated CRC in the population.
|
28243990 |
2017 |
|
Colorectal Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Association of the OCTN1/1672T variant with increased risk for colorectal cancer in young individuals and ulcerative colitis patients.
|
21793125 |
2012 |
|
Congenital neurologic anomalies
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Congestive heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
Three focused DEGs, solute carrier family 22 member 4 (SLC22A4), interleukin‑1 receptor 2 (IL1R2) and vanin 3 (VNN3), were finally revealed to be independently associated with elevated NLR in CHF patients.
|
29901123 |
2018 |