| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.850 | GeneticVariation | BEFREE | We also show that HiFi Cas9 mediates high-level correction of the sickle cell disease (SCD)-causing p.E6V mutation in HSPCs derived from patients with SCD. | 30082871 | 2018 |
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|
A | 0.850 | CausalMutation | CLINVAR | The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). | 26275168 | 2016 |
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|
0.850 | GeneticVariation | BEFREE | We also show efficient correction of the Glu6Val mutation responsible for sickle cell disease by using patient-derived stem and progenitor cells that, after differentiation into erythrocytes, express adult β-globin (HbA) messenger RNA, which confirms intact transcriptional regulation of edited HBB alleles. | 27820943 | 2016 |
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|
0.850 | GeneticVariation | BEFREE | Sickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. | 27814292 | 2016 |
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|
A | 0.850 | CausalMutation | CLINVAR | Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. | 25023084 | 2014 |
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|
A | 0.850 | CausalMutation | CLINVAR | Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India. | 25023085 | 2014 |
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|
0.850 | GeneticVariation | UNIPROT | Structure of fully liganded Hb ζ2β2s trapped in a tense conformation. | 24100324 | 2013 |
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|
0.850 | GeneticVariation | BEFREE | Sickle cell anemia (SCA, HBB glu6val) is characterized by multiple complications and a high degree of phenotypic variability: some subjects have only sporadic pain crises and few acute hospitalizations, while others experience multiple serious complications, high levels of morbidity, and accelerated mortality [1]. | 21264913 | 2011 |
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|
0.850 | GeneticVariation | BEFREE | Thalassaemia and sickle cell disease (SCD) represent the most common forms of hereditary haemolytic anaemia and result from a partial or complete lack of synthesis of one of the major alpha- or beta-globin chains of haemoglobin A or from a single amino acid mutation (beta(6Glu-->Val)) of the beta-globin chain respectively. | 17854302 | 2007 |
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|
0.850 | GeneticVariation | UNIPROT | How malaria has affected the human genome and what human genetics can teach us about malaria. | 16001361 | 2005 |
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0.850 | GeneticVariation | UNIPROT | Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution. | 1195378 | 1975 |
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0.850 | GeneticVariation | UNIPROT | Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. | 13464827 | 1957 |