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Details
Link-It Detail - Disease - Aminoaciduria
Debug Stats
  • ### Total Build Time: 76 ms 27.417 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 324 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=1 ms Completed: 1 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=12 ms Completed: 12 ms rowSize= 1.464 KB
  • CONCEPT_GENES gt=54 ms Completed: 54 ms rowSize= 24.419 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=3 ms Completed: 3 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Aminoaciduria C0238621
Relationships (2)

Relation Types:
diso_​to_​diso : 2


Relationships:
isa : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Benign neonatal hyperaminoaciduria C0268458
DISO_to_DISOisaimg Imidazole aminoaciduria C0268516
Genes (26)

Species:
human : 26
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanUQCRQ27089ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanSLC7A911136solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanSLC19A210560solute carrier family 19 (thiamine transporter), member 2
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanSUCLA28803succinate-CoA ligase, ADP-forming, beta subunit
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanALDH4A18659aldehyde dehydrogenase 4 family, member A1
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanUQCRB7381ubiquinol-cytochrome c reductase binding protein
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanTK27084thymidine kinase 2, mitochondrial
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanSLC5A26524solute carrier family 5 (sodium/glucose cotransporter), member 2
img GENERIF, Score=1000, Pubmed Id: 15610225, UMLKSK CUI: C0238621
HumanSLC3A16519solute carrier family 3 (amino acid transporter heavy chain), member 1
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanPEX55830peroxisomal biogenesis factor 5
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanPEX195824peroxisomal biogenesis factor 19
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanPRODH5625proline dehydrogenase (oxidase) 1
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanPEX145195peroxisomal biogenesis factor 14
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanPEX135194peroxisomal biogenesis factor 13
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanPEX105192peroxisomal biogenesis factor 10
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanPEX15189peroxisomal biogenesis factor 1
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanGALT2592galactose-1-phosphate uridylyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanGALE2582UDP-galactose-4-epimerase
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanCOX6B11340cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanCLCN51184chloride channel, voltage-sensitive 5
img OMIM, Score=1000, UMLKSK CUI: C0238621
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanCASR846calcium-sensing receptor
img OMIM, Score=1000, UMLKSK CUI: C0238621
HumanBCS1L617BC1 (ubiquinol-cytochrome c reductase) synthesis-like
img OMIM, Score=1000, UMLKSK CUI: C0238621
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0238621Aminoaciduria0self