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Details
Link-It Detail - Disease - Cystinuria
Debug Stats
  • ### Total Build Time: 124 ms 37.514 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 466 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=16 ms Completed: 16 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=16 ms Completed: 16 ms rowSize= 5.427 KB
  • CONCEPT_RELATIONSHIPS gt=66 ms Completed: 66 ms rowSize= 13.508 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 15.874 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Cystinuria C0010691
CSNU
Definition (1)
An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Renal Aminoacidurias C0002534
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Renal Aminoacidurias C0002534
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Renal Aminoacidurias C0002534
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208877img Renal Aminoacidurias C0002534
img Male Urogenital Diseases C1720894img Urologic Diseases C00420756img Renal Aminoacidurias C0002534
Relationships (30)

Relation Types:
diso_​to_​chem : 16
diso_​to_​diso : 8
diso_​to_​gene : 4
diso_​to_​phen : 2


Relationships:
none : 5
alias_​of : 1
gene_​associated_​with_​disease : 4
gene_​product_​malfunction_​associated_​with_​disease : 2
isa : 4
may_​treat : 11
related_​to : 3
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN88img genetic aspects C0017399
DISO_to_CHEM72img Amino Acid Transport Systems, Basic C0949774
DISO_to_PHEN57img genetic aspects C0017399
DISO_to_CHEM47img Amino Acid Transport Systems, Basic C0949774
DISO_to_CHEM33img Amino Acid Transport Systems, Neutral C0969702
DISO_to_CHEMmay_treatimg .beta.,.beta.-Dimethylcysteine C0030817
DISO_to_CHEMmay_treatimg 5,7-Diiod-8-chinolinol C0012341
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg B(0,+)-Type Amino Acid Transporter 1 C2986633
DISO_to_CHEMmay_treatimg IODOQUINOL 210 MG ORAL TABLET C0689225
DISO_to_CHEMmay_treatimg IODOQUINOL 25GM/BTL PWDR C0977883
DISO_to_CHEMmay_treatimg IODOQUINOL 3%/LANOLIN DERIVATIVES SHAMPOO C0977884
DISO_to_CHEMmay_treatimg IODOQUINOL 650 MG ORAL TABLET C0689226
DISO_to_CHEMmay_treatimg Iodoquinol C0012341
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Neutral and Basic Amino Acid Transport Protein rBAT C2986631
DISO_to_CHEMmay_treatimg PENICILLAMINE 125 MG ORAL CAPSULE C0689910
DISO_to_CHEMmay_treatimg PENICILLAMINE 250 MG ORAL CAPSULE C0689911
DISO_to_CHEMmay_treatimg PENICILLAMINE 250 MG ORAL TABLET, COATED C0689912
DISO_to_CHEMmay_treatimg Penicillamine C0030817
DISO_to_DISOalias_ofimg CSNU C0010691
DISO_to_DISOrelated_toimg CYSTINURIA, TYPE A C1857388
DISO_to_DISOrelated_toimg CYSTINURIA, TYPE A/B C1857390
DISO_to_DISOrelated_toimg CYSTINURIA, TYPE B C1857389
DISO_to_DISOisaimg Cystinuria type 1 C0268643
DISO_to_DISOisaimg Cystinuria, type 2 C0268644
DISO_to_DISOisaimg Cystinuria, type 3 C0268645
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanSLC7A911136solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
img GENERIF, Score=1000, Pubmed Id: 14531788, UMLKSK CUI: C0010691
img GAD, Score=1000, Pubmed Id: 15635077, UMLKSK CUI: C0010691
img GAD, Score=1000, Pubmed Id: 14991253, UMLKSK CUI: C0010691
img GAD, Score=1000, Pubmed Id: 12779097, UMLKSK CUI: C0010691
img GENERIF, Score=660, Pubmed Id: 16609684, UMLKSK CUI: C0010691
img GENERIF, Score=1000, Pubmed Id: 12234283, UMLKSK CUI: C0010691
img GAD, Score=1000, Pubmed Id: 12820697, UMLKSK CUI: C0010691
img GENERIF, Score=1000, Pubmed Id: 16138908, UMLKSK CUI: C0010691
img GENERIF, Score=1000, Pubmed Id: 15818803, UMLKSK CUI: C0010691
img GAD, Score=1000, Pubmed Id: 12239244, UMLKSK CUI: C0010691
img GENERIF, Score=660, Pubmed Id: 17701443, UMLKSK CUI: C0010691
img GENERIF, Score=660, Pubmed Id: 12371955, UMLKSK CUI: C0010691
img GENERIF, Score=1000, Pubmed Id: 16838140, UMLKSK CUI: C0010691
img OMIM, Score=1000, UMLKSK CUI: C0010691
HumanPREPL9581prolyl endopeptidase-like
img OMIM, Score=1000, UMLKSK CUI: C0010691
img OMIM, Score=1000, UMLKSK CUI: C0010691
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
Click here to display 16 evidence detail records.
HumanSLC1A56510solute carrier family 1 (neutral amino acid transporter), member 5
img GENERIF, Score=694, Pubmed Id: 16435221, UMLKSK CUI: C0010691
HumanARG1383arginase 1
img OMIM, Score=1000, UMLKSK CUI: C0010691
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0010691Cystinuria0self