|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination. (Orphanet Rare Disease Ontology, Orphanet_168598)|
|Downloads & Tools|
1 genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.
|MAT1A||methionine adenosyltransferase I, alpha||2.88009|