Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:metabolic_disorder
gptkb:inborn_error_of_metabolism |
| gptkbp:affects |
amino acid transport
|
| gptkbp:associatedWith |
defective renal reabsorption of amino acids
|
| gptkbp:cause |
increased excretion of dicarboxylic amino acids in urine
|
| gptkbp:diagnosedBy |
urine amino acid analysis
|
| gptkbp:foundIn |
humans
|
| gptkbp:relatedTo |
SLC3A1 gene mutation
SLC7A9 gene mutation |
| gptkbp:symptom |
aminoaciduria
|
| gptkbp:bfsParent |
gptkb:SLC1A1
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
dicarboxylic aminoaciduria
|