ALAS1, 5'-aminolevulinate synthase 1, 211

N. diseases: 27; N. variants: 3
Disease: Porphyria, Erythropoietic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		0.010 Biomarker disease BEFREE The treatment of hepatic porphyrias by an RNAi-targeting hepatic ALAS1 is actually tested and may lead to improve the management of acute attacks.In erythropoietic porphyrias, the key role of ALAS2 as a gate keeper of the heme and subsequently hemoglobin synthesis has been demonstrated. 28118224 2017