Hirschsprung Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Although this study has limitations (such as lack of functional evaluations, small number of cases, and further need of replication in other cohorts), our findings suggest that genetic variants of ITPKC may have a potential association with HSCR susceptibility and/or developmental diseases related to enteric nervous system development.
|
28664405 |
2017 |
Kidney Calculi
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our results indicated that rs2607420 CC genotype in the intron region of the ITPKC gene is associated with a lower eGFR by both Modification of Diet in Renal Diseases (P = 0.0405) and Cockcroft-Gault (P = 0.0215) equations in patients with calcium nephrolithiasis.
|
24800221 |
2014 |
Kidney Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Our results indicated that rs2607420 CC genotype in the intron region of the ITPKC gene is associated with a lower eGFR by both Modification of Diet in Renal Diseases (P = 0.0405) and Cockcroft-Gault (P = 0.0215) equations in patients with calcium nephrolithiasis.
|
24800221 |
2014 |
Nephrolithiasis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our results indicated that rs2607420 CC genotype in the intron region of the ITPKC gene is associated with a lower eGFR by both Modification of Diet in Renal Diseases (P = 0.0405) and Cockcroft-Gault (P = 0.0215) equations in patients with calcium nephrolithiasis.
|
24800221 |
2014 |
Malignant tumor of cervix
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We aim to study if polymorphisms in the ITPKC gene are associated with the risk of cervical cancer in Taiwanese women.
|
22610085 |
2012 |
Cervical Squamous Cell Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The frequency of G/G genotype and G allele of the ITPKC rs28493229 polymorphism was significantly higher in patients with CSCC compared with controls (OR = 1.81, 95 % CI 1.20-2.73, P = 0.005, P (c) = 0.02; OR = 1.70, 95 % CI 1.14-2.54, P = 0.008, P (c) = 0.03, respectively).
|
22610085 |
2012 |
Cervix carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We aim to study if polymorphisms in the ITPKC gene are associated with the risk of cervical cancer in Taiwanese women.
|
22610085 |
2012 |
cervical cancer
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We aim to study if polymorphisms in the ITPKC gene are associated with the risk of cervical cancer in Taiwanese women.
|
22610085 |
2012 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
KAWASAKI DISEASE, SUSCEPTIBILITY TO
|
0.100 |
SusceptibilityMutation
|
phenotype |
CLINVAR |
|
|
|
Coronary Aneurysm
|
0.310 |
Biomarker
|
disease |
CTD_human |
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
|
18084290 |
2008 |
Coronary Aneurysm
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
|
18084290 |
2008 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An increase of the free cytosolic Ca<sup>2+</sup> concentration is proposed to be a major factor in susceptibility to Kawasaki disease and disease outcome, but only for polymorphisms in the genes encoding the inositol 1,4,5-trisphosphate 3-kinase C and the Na<sup>+</sup>/Ca<sup>2+</sup> exchanger 1, the free cytosolic Ca<sup>2+</sup> concentration was actually measured and shown to be increased.
|
29604968 |
2018 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
What is new: • In recent years, multiple genetic candidate pathways involved in KD have been identified, with recently promising information about the ITPKC pathway.
|
28656474 |
2017 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first study to identify that SNP rs7251246 in ITPKC is associated with the severity of KD.
|
24621571 |
2014 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A replication study for association of ITPKC and CASP3 two-locus analysis in IVIG unresponsiveness and coronary artery lesion in Kawasaki disease.
|
23894522 |
2013 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ITPKC and CASP3 polymorphisms and risks for IVIG unresponsiveness and coronary artery lesion formation in Kawasaki disease.
|
21987091 |
2013 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A single nucleotide polymorphism (rs28493229) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) was identified to be associated with the increased risk of KD; however, in more recent studies associations have been controversial.
|
23065250 |
2012 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Five ITPKC Single-nucleotide polymorphisms, including rs28493229, were genotyped in 223 unrelated patients who had KD and 318 non-KD control subjects.
|
22361738 |
2012 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
|
22081228 |
2011 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
|
22081228 |
2011 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted to investigate if polymorphisms in ORAI1/CRACM1, a gene downstream from ITPKC, are associated with KD susceptibility and clinical outcomes.
|
21487896 |
2011 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
the GC and CC genotypes of ITPKC gene SNP rs28493229 were overrepresented in KD patients (GG:GC:CC was 236:43:1, C allele frequency: 8.04%) than those in the controls (GG:GC:CC was 454:37:1, C allele frequency: 3.96%; OR: 2.23, P = 0.001).
|
20805785 |
2011 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our results indicated that C-allele of ITPKC SNP rs28493229 is associated with the susceptibility and aneurysm formation in KD patients in a Taiwanese population.
|
21533171 |
2011 |
Mucocutaneous Lymph Node Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
A polymorphism of one such gene, ITPKC, a negative regulator of T cell activation, confers susceptibility to KD in Japanese populations and increases the risk of developing coronary artery abnormalities in both Japanese and U.S. children.
|
20690826 |
2011 |