ALAS1, 5'-aminolevulinate synthase 1, 211

N. diseases: 27; N. variants: 3
Disease: Variegate Porphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.010 Biomarker disease BEFREE To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, <i>ALAS1, HMBS</i>, <i>CPOX</i> and <i>PPOX</i> for mutational analysis of acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). 31154864 2019