Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279716
Disease: N-ACETYLASPARTATE DEFICIENCY
N-ACETYLASPARTATE DEFICIENCY
0.300 Biomarker disease GENOMICS_ENGLAND Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. 19807691 2009