| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0003358 |
| Similar Terms | |
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1 genes associated with the elevated intracellular cystine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| CTNS | cystinosin, lysosomal cystine transporter |
