MUC1, mucin 1, cell surface associated, 4582

N. diseases: 552; N. variants: 18
Disease: Malonic aciduria ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342793
Disease: Malonic aciduria
Malonic aciduria 		0.020 Biomarker disease BEFREE Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyopathy and acidosis. 20549361 2010
CUI: C0342793
Disease: Malonic aciduria
Malonic aciduria 		0.020 GeneticVariation disease BEFREE Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. 11550227 2001