rs863223904, ALAS2

N. diseases: 5
Disease: X-linked sideroblastic anemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. 21252495 2011
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. 21309041 2011
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 19731322 2010
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. 12031592 2002
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. 12393718 2002
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. 10577279 1999
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. 10029606 1999
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. 9858242 1998
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 8107717 1994
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
0.700 GeneticVariation UNIPROT "Enzymatic defect in ""X-linked"" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency." 1570328 1992