Disease ID | Disease name | Source of annotation with CTNS | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
219750 | CYSTINOSIS, ADULT NONNEPHROPATHIC | OMIM, HUMSAVAR | link to OMIM | 1 | CTNS |
219900 | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CTNS |
219800 | CYSTINOSIS, NEPHROPATHIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CTNS |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Lysosome | hsa04142 | 5.78 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
Transport of inorganic cations/anions and amino acids/oligopeptides | R-HSA-425393 | 6.41 |
Miscellaneous transport and binding events | R-HSA-5223345 | 8.66 |
Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
GO term | GO ID | GO IC |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
sulfur compound transmembrane transporter activity | GO:1901682 | 6.44 |
sulfur amino acid transmembrane transporter activity | GO:0000099 | 7.79 |
organic acid transmembrane transporter activity | GO:0005342 | 4.97 |
transporter activity | GO:0005215 | 2.57 |
modified amino acid transmembrane transporter activity | GO:0072349 | 6.97 |
transmembrane transporter activity | GO:0022857 | 2.82 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
L-amino acid transmembrane transporter activity | GO:0015179 | 6.0 |
L-cystine transmembrane transporter activity | GO:0015184 | 8.35 |
amino acid transmembrane transporter activity | GO:0015171 | 5.38 |
carboxylic acid transmembrane transporter activity | GO:0046943 | 4.99 |