Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
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
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
0.100 Biomarker disease HPO
Abnormality of amino acid metabolism
0.100 Biomarker phenotype HPO
CUI: C4023722
Disease: Abnormality of hair texture
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
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
0.100 Biomarker phenotype HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
0.100 Biomarker phenotype HPO
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax
0.100 Biomarker disease HPO
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat
0.100 Biomarker phenotype HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
0.100 Biomarker disease HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor
0.100 Biomarker phenotype HPO
CUI: C0085669
Disease: Acute leukemia
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
CUI: C0085669
Disease: Acute leukemia
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
CUI: C0023449
Disease: Acute lymphocytic leukemia
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
CUI: C0023449
Disease: Acute lymphocytic leukemia
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
CUI: C0023449
Disease: Acute lymphocytic leukemia
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
CUI: C0023465
Disease: Acute monocytic leukemia
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
CUI: C0023465
Disease: Acute monocytic leukemia
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
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.050 GeneticVariation group LHGDN Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk. 18478337 2008
CUI: C0001418
Disease: Adenocarcinoma
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
CUI: C0001418
Disease: Adenocarcinoma
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
CUI: C0001418
Disease: Adenocarcinoma
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
CUI: C0001418
Disease: Adenocarcinoma
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
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
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