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Genes (35)
Species:
human : 35 | |
| Human | UGT1A1 | 54658 | UDP glucuronosyltransferase 1 family, polypeptide A1 | UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia are reported Title:UGT1A promoter polymorphisms influence bilirubin response to hydroxyurea therapy in sickle cell anemia.|Association:Y|Conclusion:These data indicate the UGT1A promoter polymorphism is a powerful nonglobin genetic modifier in SCA that influences serum bilirubin both at baseline and on hydroxyurea therapy. UGT1A promoter polymorphisms may therefore influence the ability of hydroxyurea to prevent gallstone formation in patients with SCA. the UGT1A1 gene promoter polymorphism may have a role in cholelithiasis in sickle cell anemia patients TA)(7)/(TA)(7) genotype may be a risk factor for symptomatic gallstones in older people with sickle cell disease investigated the contribution of the A(TA)(7)TAA/A(TA)(7)TAA genotype in the promoter region of the UGT1 A1 gene in the variable unconjugated serum bilirubin levels in patients with thalassemia and sickle cell anemia the UGT1A1 promoter polymorphism may represent an important nonglobin genetic modifier of Bantu sickle cell disease patients' clinical manifestations, even at a young age The UGT1A promoter polymorphism is a powerful nonglobin genetic modifier in Sickle Cell Anemia that influences serum bilirubin both at baseline and on hydroxyurea therapy | | Human | BCL11A | 53335 | B-cell CLL/lymphoma 11A (zinc finger protein) | Study shows that SNPs in BCL11A were associated with HbF containing erythrocyte numbers in Chinese with beta-thalassemia trait, and with HbF levels in Thais with either beta-thalassemia or HbE trait and in African Americans with sickle cell anemia | | Human | VEGFA | 7422 | vascular endothelial growth factor A | The correlation between soluble P-selectin and VEGF in sickle cell disease and HbSC disease is consistent with the view that VEGF is released from platelets during in vivo activation | | Human | VCAM1 | 7412 | vascular cell adhesion molecule 1 | In adults with sickle cell disease, steady-state serum sVCAM-1 levels do not seem to reflect clinical disease severity, but may reflect bone marrow activity in SCD, underlying the pleiotropic nature of adhesion molecules in vivo | | Human | UGT2B7 | 7364 | UDP glucuronosyltransferase 2 family, polypeptide B7 | Presence of UGT2B7 -840G allele is associated with significantly reduced glucuronidation of morphine and thus contributes to the variability in hepatic clearance of morphine in sickle cell anemia | | Human | NR2C1 | 7181 | nuclear receptor subfamily 2, group C, member 1 | These data suggest that TR2/TR4 forms the core of a larger DRED complex that represses embryonic and fetal globin transcription in definitive erythroid cells, and therefore that inhibition of its activity might be an attractive intervention point for treating sickle cell anemia. These data suggest that TR2/TR4 forms the core of a larger DRED complex that represses embryonic and fetal globin transcription in definitive erythroid cells, and therefore that inhibition of its activity might be an attractive intervention point for treating sickle cell anemia. | | Human | TNFRSF1A | 7132 | tumor necrosis factor receptor superfamily, member 1A | High frequency of TNFRSF1A polymorphism is associated with Sickle Cell Anemia | | Human | TNF | 7124 | tumor necrosis factor | replication of our results in a second independent population of children with sickle cell anemia provides evidence for a true association between the TNF(-308) G/A variant and large vessel stroke risk | | Human | SLC16A1 | 6566 | solute carrier family 16 (monocarboxylate transporter), member 1 | INFERRED, Score=800, UMLKSK CUI: C0002895 | | Human | SELL | 6402 | selectin L | There was no association between L-Selectin gene polymorphisms and high expression of L-selectin by leukocytes, or the development of complications in Sickle cell disease | | Human | PGF | 5228 | placental growth factor | Placenta growth factor contributes to the inflammation observed in sickle cell disease and increases the incidence of vaso-occlusive events | | Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Title:Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease.|Association:Y|Conclusion:Multiple logistic regression analysis showed that relative risk of ACS was 8.695 (P = 0.0076, 95% confidence interval 1.761-42.920) for female carriers of C-786. eNOS T-786C is a gender-specific genetic modifier that is associated with increased susceptibility to ACS in female SCD patients. | | Human | NOS1 | 4842 | nitric oxide synthase 1 (neuronal) | Title:|Association:Y|Conclusion:We conclude that FE(NO) levels are significantly reduced in subjects who have a history of ACS and that the FE(NO) levels are significantly correlated with the number of NOS I AAT repeats. FE(NO) is a sensitive marker and may be a predictor of ACS prone children. | | Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | the A1298C, but not C677T, mutation of methylenetetrahydrofolate reductase is associated with the genotype of sickle cell disease presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in sickle cell disease (SCD) Title:A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil|Association:Y|Conclusion:These results became important once the C677T MTHFR gene polymorphism was found to be an independent risk factor for vascular disease, a common clinical event in sickle cell disease. | | Human | MPO | 4353 | myeloperoxidase | a polymorphism (G-463A MPO) in the gene encoding the myeloperoxidase (MPO) enzyme, important for the host defense system, may significantly increase susceptibility to infection in sickle cell anemia | | Human | BCAM | 4059 | basal cell adhesion molecule (Lutheran blood group) | B-CAM/LU is the most critical receptor mediating adhesion to laminin under both static and flow conditions in sickle cell anemia Lu/BCAM gps expressed on erythroid or on endothelial cells are involved in SS RBC-endothelium interactions & could play a role in abnormal adhesion of SS RBCs to vascular endothelium contributing to vaso-occlusive crises reported for sickle cell disease | | Human | LTF | 4057 | lactotransferrin | Plasma levels do not affect the number of infections or ocmplications in sickle-cell anemia | | Human | IGFBP3 | 3486 | insulin-like growth factor binding protein 3 | children with sickle cell anemia with poor growth had significantly more proteolyzed IGFBP-3 in serum compared to children with normal growth | | Human | IGF1R | 3480 | insulin-like growth factor 1 receptor | both IGF1R and the TGF-beta /BMP pathway could play important roles in immune function in sickle cell anemia and their polymorphisms may help identify a "bacteremia-prone" phenotype | | Human | IGF1 | 3479 | insulin-like growth factor 1 (somatomedin C) | We demonstrated that children with sickle cell anemia have abnormalities in the IGF-I axis, which worsen with age | | Human | ICAM4 | 3386 | intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) | LW play potentially pathophysiological roles in sickle cell disease | | Human | HLA-DRB1 | 3123 | | results show that specific HLA haplotypes influence sickle cell anemia (SCA) osteomyelitis risk and that specific HLA types may serve as markers for identifying SCA patients at high risk for osteomyelitis Title:Infectious complications in sickle cell disease are influenced by HLA class II alleles.|Association:Y|Conclusion:These findings suggest a direct involvement of HLA polymorphism in the development of major infections in SCD. Together with previous data on polymorphism of the Fc receptor and of the mannose-binding lectin, they provide evidence for a polygenic immunomodulation of the constitutively increased infectious risk in SCD. | | Human | HLA-DQB1 | 3119 | | results show that specific HLA haplotypes influence sickle cell anemia (SCA) osteomyelitis risk and that specific HLA types may serve as markers for identifying SCA patients at high risk for osteomyelitis Title:Infectious complications in sickle cell disease are influenced by HLA class II alleles.|Association:Y|Conclusion:These findings suggest a direct involvement of HLA polymorphism in the development of major infections in SCD. Together with previous data on polymorphism of the Fc receptor and of the mannose-binding lectin, they provide evidence for a polygenic immunomodulation of the constitutively increased infectious risk in SCD. | | Human | HBB | 3043 | hemoglobin, beta | The researchers assessed the freqency of beta(S) haplotypes in sickle cell disease patients in Trinidad and found that the Benin haplotype is the most common Title:A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination|Association:Not Found|Conclusion:We show in addition, that as little as 5% maternal contamination can be detected and that genotype determinations are unambiguous. Title:Beta-globin gene cluster haplotypes in sickle cell patients from southwest Iran.|Association:Not Found|Conclusion:The presence of the Arab-Indian haplotype as the predominant haplotype might be suggestive of a gene flow to/from Saudi Arabia or India. More haplotype investigations of a normal population can clarify the high incidence of Bantu A2 haplotype in our population. Title:beta-Globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon|Association:Y|Conclusion:Our findings suggest that fetal hemoglobin levels are important but not the only parameters that affect the severity of the disease. In addition, the high levels of HbF in patients with CAR haplotypes did not seem to ameliorate the severity of symptoms, suggesting that genetic factors other than haplotypes are the major determinants of increased HbF levels in Lebanon. | | Human | HBA1 | 3039 | hemoglobin, alpha 1 | Glycosylated haemoglobin (HbA1) was determined by a microcolumn technique using Biorex 70 resin in normal Nigerians and in patients with diabetes, iron deficiency anaemia, sickle cell disease and renal failure. |
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