ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 Biomarker disease BEFREE We alert clinicians to consider ADK deficiency in any neonate presenting with global developmental delay, hypotonia, dysmorphic features, and high methionine levels. 30477030 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 Biomarker disease HPO