ALAS1, 5'-aminolevulinate synthase 1, 211

N. diseases: 27; N. variants: 3
Disease: Erythropoietic Protoporphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162568
Disease: Erythropoietic Protoporphyria
Erythropoietic Protoporphyria 		0.020 AlteredExpression disease BEFREE Moreover, ALAS2 gain of function mutations is responsible for X-linked protoporphyria and increased ALAS1 activity lead to acute attacks of hepatic porphyrias. 30737140 2019
CUI: C0162568
Disease: Erythropoietic Protoporphyria
Erythropoietic Protoporphyria 		0.020 GeneticVariation disease BEFREE In about 2% of patients, overt disease was recently shown to be caused by gain-of-function mutations in the erythroid-specific aminolevulinic acid synthase 2 (ALAS2/ALAS, EC 2.3.1.27) gene and named X-linked dominant protoporphyria. 19744342 2009