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Details
Link-It Detail - Disease - CYSTINURIA WITH MITOCHONDRIAL DISEASE
Debug Stats
  • ### Total Build Time: 55 ms 18.354 KB
  • CONCEPT_NAME gt=20 ms Completed: 20 ms rowSize= 372 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 12.606 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 4.144 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.171 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CYSTINURIA WITH MITOCHONDRIAL DISEASE C1848030
Relationships (41)

Relation Types:
diso_​to_​diso : 41


Relationships:
manifestation_​of : 40
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg 2p21del syndrome is a contiguous gene syndrome caused by 179kb deletion containing the SLC3A1 (104614), PREPL (609557), PPM1B (603770), and C2orf34 (609559) genes C2676344
DISO_to_DISOmanifestation_ofimg Almond-shaped eyes (2p21del) C2676328
DISO_to_DISOmanifestation_ofimg Bladder cystine calculi (2p21del) C2676317
DISO_to_DISOmanifestation_ofimg Both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia C2676345
DISO_to_DISOrelated_toimg CYSTINURIA WITH MITOCHONDRIAL DISEASE C1848030
DISO_to_DISOmanifestation_ofimg Cystinuria, type I (HCS and 2p21del) C2676347
DISO_to_DISOmanifestation_ofimg Decreased fetal movements (2p21del and HCS) C2676321
DISO_to_DISOmanifestation_ofimg Decreased mitochondrial respiratory chain complex (2p21del) C2676341
DISO_to_DISOmanifestation_ofimg Depressed nasal bridge (2p21del) C2676331
DISO_to_DISOmanifestation_ofimg Developmental delay, severe (2p21del) C2676313
DISO_to_DISOmanifestation_ofimg Dolichocephaly (HCS) C2676324
DISO_to_DISOmanifestation_ofimg Failure to thrive (birth to 6-8 years) (HCS) C2676319
DISO_to_DISOmanifestation_ofimg Failure to thrive, severe (2p21del) C2676320
DISO_to_DISOmanifestation_ofimg Feeding problems (HCS and 2p21del) C2676323
DISO_to_DISOmanifestation_ofimg Frontal bossing (2p21del) C2676325
DISO_to_DISOmanifestation_ofimg Growth hormone deficiency (HCS) C2676308
DISO_to_DISOmanifestation_ofimg HCS is a contiguous gene syndrome caused by 23.8-75.5kb deletion containing the SLC3A1 (104614) and PREPL (609557) genes C2676343
DISO_to_DISOmanifestation_ofimg Hypergonadotropic hypogonadism (HCS) C2676309
DISO_to_DISOmanifestation_ofimg Hyperphagia in late childhood (HCS) C2676315
DISO_to_DISOmanifestation_ofimg Hypotonia (HCS and 2p21del) C2676312
DISO_to_DISOmanifestation_ofimg Increased urinary cystine, arginine, lysine, and ornithine (HCS and 2p21del) C2676339
DISO_to_DISOmanifestation_ofimg Lactic acidemia (2p21del) C2676335
DISO_to_DISOmanifestation_ofimg Large ears (2p21del) C2676326
DISO_to_DISOmanifestation_ofimg Long eyelashes (2p21del) C2676329
DISO_to_DISOmanifestation_ofimg Mental retardation, moderate-severe (2p21del) C2676314
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanC2orf3479823
img GENERIF, Score=923, Pubmed Id: 18234729, UMLKSK CUI: C1848030
HumanPREPL9581prolyl endopeptidase-like
img GENERIF, Score=1000, Pubmed Id: 16385448, UMLKSK CUI: C1848030
img GENERIF, Score=923, Pubmed Id: 18234729, UMLKSK CUI: C1848030
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
img GENERIF, Score=923, Pubmed Id: 18234729, UMLKSK CUI: C1848030
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1848030CYSTINURIA WITH MITOCHONDRIAL DISEASE0self