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cystinuria
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SLC3A1
SLC7A9
DEL2P21
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
MODULE_186
REACTOME_AMINO_ACID_TRANSPORT_ACROSS_THE_PLASMA_MEMBRANE
REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS
L-alpha-amino acid transmembrane transport
REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES
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Curated Studies
Most Correlated Studies
OMIM - Hypotonia-cystinuria syndrome
Mouse Phenotypes - Kidney diseases
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Unraveling the natural history of presymptomatic cystinuria.
Case-based review of dietary management of cystinuria.
Cystinuria: clinical practice recommendation.
The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuri…
Cystinuria: an update on pathophysiology, genetics, and clinical management.
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Clinical Trials
Most Relevant Clinical Trials
Study Evaluating Patients With Cystinuria
Effect of Urine Alkalinazation on Urinary Inflammatory Markers in Patients With Cystinuria
Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cysti…
TCUPS- Tolvaptan Use in Cystinuria and Urolithiasis: A Pilot Study
Effect of Increasing Doses of Tiopronin on Cystine Capacity in Patients With Cystinuria
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