|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. (Human Phenotype Ontology, HP_0003358)|
|Downloads & Tools|
1 genes associated with the elevated intracellular cystine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
|CTNS||cystinosin, lysosomal cystine transporter|