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Details
Link-It Detail - Disease - CHOREOATHETOSIS
Debug Stats
  • ### Total Build Time: 92 ms 29.204 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 328 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=40 ms Completed: 40 ms rowSize= 3.524 KB
  • CONCEPT_GENES gt=35 ms Completed: 35 ms rowSize= 24.140 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CHOREOATHETOSIS C0085583
Relationships (7)

Relation Types:
diso_​to_​diso : 7


Relationships:
isa : 1
mapped_​to : 5
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmapped_toimg ATHETOID C0541790
DISO_to_DISOmapped_toimg Athetosis C0004158
DISO_to_DISOmapped_toimg CHOREIFORM C0541831
DISO_to_DISOmapped_toimg CHOREOATHETOID MOVEMENTS C0234967
DISO_to_DISOmapped_toimg Chorea C0008489
DISO_to_DISOused_forimg Extrapyramidal Disorders C0015371
DISO_to_DISOisaimg Kinesiogenic choreoathetosis C0393587
Genes (27)

Species:
human : 27
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanARX170302aristaless related homeobox
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanPANK280025pantothenate kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanGJC257165gap junction protein, gamma 2, 47kDa
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanPNKD25953paroxysmal nonkinesigenic dyskinesia
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanNUP6223636nucleoporin 62kDa
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanHUWE110075HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanST3GAL58869ST3 beta-galactoside alpha-2,3-sialyltransferase 5
img OMIM, Score=928, UMLKSK CUI: C0085583
HumanXPA7507xeroderma pigmentosum, complementation group A
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanNKX2-17080
img OMIM, Score=1000, UMLKSK CUI: C0085583
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanSUOX6821sulfite oxidase
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanCDKL56792cyclin-dependent kinase-like 5
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanSLC2A16513solute carrier family 2 (facilitated glucose transporter), member 1
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanPLP15354proteolipid protein 1
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanPDHA15160pyruvate dehydrogenase (lipoamide) alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanHSPD13329heat shock 60kDa protein 1 (chaperonin)
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanHPRT13251hypoxanthine phosphoribosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanHSD17B103028hydroxysteroid (17-beta) dehydrogenase 10
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanGCDH2639glutaryl-CoA dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanFTL2512ferritin, light polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanERCC22068excision repair cross-complementing rodent repair deficiency, complementation group 2
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanATN11822atrophin 1
img OMIM, Score=1000, UMLKSK CUI: C0085583
HumanDDC1644dopa decarboxylase (aromatic L-amino acid decarboxylase)
img OMIM, Score=1000, UMLKSK CUI: C0085583
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085583CHOREOATHETOSIS0self