ABLEPHARON-MACROSTOMIA SYNDROME
|
0.010 |
Biomarker
|
disease |
BEFREE |
Second, the targets of DZ were predicted using the SwissTargetPrediction and STITCH databases; the targets of AMS were also collected from the Drugbank and TTD databases.
|
31835126 |
2020 |
Abnormal nasal morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of amino acid metabolism
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of hair texture
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of immune system physiology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of prenatal development or birth
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of retinal pigmentation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of the dentition
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of the thorax
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Absence of subcutaneous fat
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Acquired Kyphoscoliosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Action Tremor
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Acute leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Case-only study of interactions between DNA repair genes (hMLH1, APEX1, MGMT, XRCC1 and XPD) and low-frequency electromagnetic fields in childhood acute leukemia.
|
19052983 |
2008 |
Acute leukemia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The effect of XPD/ERCC2 Lys751Gln polymorphism on acute leukemia risk: a systematic review and meta-analysis.
|
24486506 |
2014 |
Acute lymphocytic leukemia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esophageal cancer [for Lys/Gln versus Lys/Lys: odds ratio (OR), 1.34; 95% confidence interval (95% CI), 1.10-1.64; for Gln/Gln versus Lys/Lys: OR, 1.61; 95% CI, 1.16-2.25] and acute lymphoblastic leukemia (for Gln/Gln versus Lys/Lys: OR, 1.83; 95% CI, 1.21-2.75) are revealed.
|
18349268 |
2008 |
Acute lymphocytic leukemia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to evaluate the frequency of polymorphisms in the TYMS, XRCC1, and ERCC2 DNA repair genes in pediatric patients with acute lymphoblastic leukemia using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (RFLP) approaches.
|
21463130 |
2011 |
Acute lymphocytic leukemia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Normal individuals harboring XPD polymorphisms are at increased risk for developing acute lymphoblastic leukemia and acute myeloid leukemia (AML).
|
23207728 |
2013 |
Acute monocytic leukemia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
XPD Lys751Gln and not Asp312Asn polymorphism was associated with chemotherapy-induced cardiotoxicity and response to induction chemotherapy in newly diagnosed cytogenetically normal AML patients.
|
24284041 |
2014 |
Acute monocytic leukemia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Genotyping of 456 children treated for de novo AML was performed at XPD exon 23.
|
16150943 |
2006 |
Adenocarcinoma
|
0.050 |
GeneticVariation
|
group |
LHGDN |
Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk.
|
18478337 |
2008 |
Adenocarcinoma
|
0.050 |
GeneticVariation
|
group |
LHGDN |
[Association of genetic polymorphisms in the DNA repair gene XPD with risk of lung and esophageal cancer in a Chinese population in Beijing].
|
12579497 |
2003 |
Adenocarcinoma
|
0.050 |
GeneticVariation
|
group |
LHGDN |
In a nationwide population-based case-control study, we examined associations of polymorphisms in the DNA repair genes XPD, XPC, XRCC1 and XRCC3 with risk of esophageal adenocarcinoma, squamous-cell carcinoma (SCC) and gastric cardia adenocarcinoma, and paid special attention to possible interactions with symptomatic reflux or body mass.
|
16571649 |
2006 |
Adenocarcinoma
|
0.050 |
GeneticVariation
|
group |
BEFREE |
XPD variant genotypes (312Asn/Asn and 751Gln/Gln) presented a not statistically significant risk of developing lung cancer (OR = 1.52; 95%CI = 0.91-2.51; OR = 1.38; 95%CI = 0.85-2.25, respectively), especially among ever smokers (OR = 1.58; 95%CI = 0.96-2.60), heavy smokers (OR = 2.07; 95%CI = 0.74-5.75), and adenocarcinoma (OR = 1.88; 95%CI = 0.97-3.63).
|
17705814 |
2007 |
Adenocarcinoma
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Genetic polymorphisms in DNA repair genes XPC, XPD, and XRCC4, and susceptibility to Helicobacter pylori infection-related gastric antrum adenocarcinoma in Guangxi population, China.
|
20232359 |
2010 |
Adenocarcinoma Of Esophagus
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66).
|
15878910 |
2005 |