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Search summary (Disease ID: MONDO:0018467)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
2
Number of reactions:
1
Search results (Disease ID: MONDO:0018467)
MONDO:0018467
Disease Name:
nephropathic infantile cystinosis
OMIM id:
OMIM:219800
Orphanet id:
Orphanet:411629
All associated enzymes in DAR:
CTNS
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DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
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Reactions
MONDO:0018467
CTNS
O60931
-
R-HSA-425393
R-HSA-425393
Reactome Name:
Transport of inorganic cations/anions and amino acids/oligopeptides
See in Reactome
R-HSA-5223345
R-HSA-5223345
Reactome Name:
Miscellaneous transport and binding events
See in Reactome
R-HSA-425407
R-HSA-425407
Reactome Name:
SLC-mediated transmembrane transport
See in Reactome
R-HSA-382551
R-HSA-382551
Reactome Name:
Transport of small molecules
See in Reactome
Transport of small molecules
R-HSA-5340130
( R-HSA-425393; R-HSA-5223345 )
R-HSA-5340130
Reaction Name:
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol
See in Reactome
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