Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE β-thalassemia and sickle cell disease (SCD) are prototypical Mendelian single gene disorders, both caused by mutations affecting the adult β-globin gene. 29127676 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE β-hemoglobinopathies such as sickle cell disease (SCD) and β-thalassemia result from mutations in the adult HBB (β-globin) gene. 29610478 2018
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
0.030 GeneticVariation disease BEFREE Within this group, the radiological phenotype differs mildly from that of DLL3 mutation-positive SCD and is variable, suggesting further heterogeneity. 15122512 2004
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.010 Biomarker disease BEFREE With a highlight of a specific PKC isoform, PKCδ, we aim to propose PKC as an essential regulator of chronic pain in SCD, which may ultimately lead to innovative therapeutic strategies for treating this devastating life-long problem in patients with SCD. 31051220 2019
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
0.010 Biomarker disease BEFREE With a highlight of a specific PKC isoform, PKCδ, we aim to propose PKC as an essential regulator of chronic pain in SCD, which may ultimately lead to innovative therapeutic strategies for treating this devastating life-long problem in patients with SCD. 31051220 2019
Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB
0.010 Biomarker disease BEFREE With a highlight of a specific PKC isoform, PKCδ, we aim to propose PKC as an essential regulator of chronic pain in SCD, which may ultimately lead to innovative therapeutic strategies for treating this devastating life-long problem in patients with SCD. 31051220 2019
Entrez Id: 966
Gene Symbol: CD59
CD59
0.020 Biomarker disease BEFREE Whole-body protein breakdown (4.4 +/- 0.4 compared with 3.1 +/- 0.1 mg x kg FFM(-1) x min(-1), P < or = 0.05) and protein synthesis (4.6 +/- 0.4 compared with 3.2 +/- 0.1 g x kg FFM(-1) x min(-1), P < or = 0.05) were 42% and 44% greater, respectively, in the SCD patients than in control subjects, but whole-body amino acid oxidation (0.90 +/- 0.05 compared with 1.03 +/- 0.09 mg x kg FFM(-1) x min(-1)) was not significantly different between the 2 groups. 9734737 1998
Entrez Id: 3004
Gene Symbol: GZMM
GZMM
0.010 Biomarker disease BEFREE Whole exome sequencing identified a homozygous start-loss variant in DMRT2 (NM_006557.6: c.1A > T p.[Met1?]) being a likely cause of the SCD-like phenotype in the proband. 29681102 2018
Entrez Id: 10655
Gene Symbol: DMRT2
DMRT2
0.010 GeneticVariation disease BEFREE Whole exome sequencing identified a homozygous start-loss variant in DMRT2 (NM_006557.6: c.1A > T p.[Met1?]) being a likely cause of the SCD-like phenotype in the proband. 29681102 2018
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 Biomarker disease BEFREE While the addition of the wild-type beta-globin gene is naturally suited for treating beta-thalassemia, several alternatives have been proposed for the treatment of sickle cell disease, using either gamma- or mutant beta-globin gene addition, trans-splicing or RNA interference. 18991654 2008
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 Biomarker disease BEFREE While the addition of the wild-type beta-globin gene is naturally suited for treating beta-thalassemia, several alternatives have been proposed for the treatment of sickle cell disease, using either gamma or mutant beta-globin gene addition, trans-splicing or RNA interference. 16567956 2006
Entrez Id: 4602
Gene Symbol: MYB
MYB
0.100 AlteredExpression disease BEFREE We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. 21057501 2010
Entrez Id: 10767
Gene Symbol: HBS1L
HBS1L
0.080 GeneticVariation disease BEFREE We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. 21057501 2010
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
0.200 GeneticVariation disease BEFREE We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. 21057501 2010
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.010 GeneticVariation disease BEFREE We used prime editing in human cells to correct, efficiently and with few byproducts, the primary genetic causes of sickle cell disease (requiring a transversion in HBB) and Tay-Sachs disease (requiring a deletion in HEXA); to install a protective transversion in PRNP; and to insert various tags and epitopes precisely into target loci. 31634902 2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
0.010 GeneticVariation disease BEFREE We used prime editing in human cells to correct, efficiently and with few byproducts, the primary genetic causes of sickle cell disease (requiring a transversion in HBB) and Tay-Sachs disease (requiring a deletion in HEXA); to install a protective transversion in PRNP; and to insert various tags and epitopes precisely into target loci. 31634902 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.800 GeneticVariation disease BEFREE We used prime editing in human cells to correct, efficiently and with few byproducts, the primary genetic causes of sickle cell disease (requiring a transversion in HBB) and Tay-Sachs disease (requiring a deletion in HEXA); to install a protective transversion in PRNP; and to insert various tags and epitopes precisely into target loci. 31634902 2019
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
0.010 Biomarker disease BEFREE We suggest that 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. 16886151 2006
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
0.010 GeneticVariation disease LHGDN We suggest that 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. 16886151 2006
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
0.090 GeneticVariation disease BEFREE We studied the 27-base pair tandem repeat polymorphism in intron 4 of eNOS gene in 51 patients with SCD compared with 55 healthy controls and evaluated its role in disease severity and hemolysis-associated complications. 25263931 2015
Entrez Id: 3162
Gene Symbol: HMOX1
HMOX1
0.300 Biomarker disease BEFREE We speculate that HO-1 gene delivery to the liver is beneficial in SCD mice by degrading pro-oxidative heme, releasing anti-inflammatory heme degradation products CO and biliverdin/bilirubin into circulation, activating cytoprotective pathways and inhibiting vascular stasis at sites distal to transgene expression. 20306336 2010
Entrez Id: 3162
Gene Symbol: HMOX1
HMOX1
0.300 Therapeutic disease RGD We speculate that HO-1 gene delivery to the liver is beneficial in SCD mice by degrading pro-oxidative heme, releasing anti-inflammatory heme degradation products CO and biliverdin/bilirubin into circulation, activating cytoprotective pathways and inhibiting vascular stasis at sites distal to transgene expression. 20306336 2010
Entrez Id: 2523
Gene Symbol: FUT1
FUT1
0.030 Biomarker disease BEFREE We sought to assess the safety and efficacy of plerixafor when used in transfused patients with SCD for HSC mobilization. 30282642 2018
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
0.100 GeneticVariation disease BEFREE We show that, although alpha-thalassemia is associated with modest reduction in hemolysis and unconjugated bilirubin level, UGT1A1 polymorphism outweighs its effect on cholethiogenesis in sickle cell anemia patients. 16628735 2006
Entrez Id: 445
Gene Symbol: ASS1
ASS1
0.010 GeneticVariation disease BEFREE We show that two ASS1 genomic variants (namely, rs10901080 and rs10793902) can serve as pharmacogenomic biomarkers to predict hydroxyurea treatment efficacy in sickle cell disease/β-thalassemia compound heterozygous patients. 26895070 2016