MPEG1, macrophage expressed 1, 219972

N. diseases: 98; N. variants: 0
Disease: congenital metabolic disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		0.010 GeneticVariation disease BEFREE Mucopolysaccharidosis type 1 (MPS-1), also known as Hurler's disease, is a congenital metabolic disorder caused by a mutation in the alpha-L-iduronidase (IDUA) gene, which results in the loss of lysosomal enzyme function for the degradation of glycosaminoglycans. 31065277 2019