| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | disease | BEFREE | This report confirms the considerable variability in manifestations among patients with ALAS2 or SLC25A38 mutations and draws attention to differences in the assessment and the monitoring of iron overload and its complications. | 28772256 | 2017 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | We suggest that the ALAS2 mutation together with chronic hepatitis C infection may have caused the severe iron overload phenotype. | 18823803 | 2009 | ||||
|
0.090 | Biomarker | disease | BEFREE | Local mitochondrial iron overload is present in all sideroblastic anaemias, whereas systemic iron overload occurs only in the forms because of primary or secondary deficiency of ALAS2. | 18637800 | 2008 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | ALAS2 R452S largely explains this patient's microcytic anemia and multi-organ iron overload and dysfunction. | 19066423 | 2008 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. | 18760763 | 2008 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Direct sequencing of the ALAS2 gene was performed on 24 subjects with primary hemochromatosis and one subject with sideroblastic anemia with severe iron overload. | 16446107 | 2007 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Four female relatives were ALAS2 R452H heterozygotes, but they had mild or no anemia and no iron overload. | 16540354 | 2006 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | The occurrence of anemia and iron overload may be discordant in women heterozygous for ALAS2 mutations. | 15885606 | 2005 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | 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 |