Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.500 AlteredExpression LHGDN A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. 12663458

2003
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.500 GeneticVariation LHGDN A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. 12031592

2002
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.010 GeneticVariation LHGDN Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload. 16446107

2007