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Details
Link-It Detail - Disease - Dystonic Disorders
Debug Stats
  • ### Total Build Time: 65 ms 46.655 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 269 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 554 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.396 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.520 KB
  • CONCEPT_RELATIONSHIPS gt=37 ms Completed: 37 ms rowSize= 13.358 KB
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 27.889 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dystonic Disorders C0393593
Definition (1)
inherited condition that disables body movement due to abnormal muscle contraction and twisting distorted postures.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Movement Disorders C0026650
Children (3)
img Meige Syndrome C0025183
img Torticollis C0040485
img Dystonia Musculorum Deformans C0013423
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Movement Disorders C0026650
Relationships (69)

Relation Types:
diso_​to_​anat : 10
diso_​to_​chem : 14
diso_​to_​diso : 39
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 37
is_​normal_​tissue_​origin_​of_​disease : 2
isa : 15
mapped_​to : 8
permuted_​term_​of : 1
related_​to : 2
use : 4
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN142img genetic aspects C0017399
DISO_to_PHEN107img genetic aspects C0017399
DISO_to_DISO62img Complication Aspects C1171258
DISO_to_ANAT47img Hand C0018563
DISO_to_ANAT45img Globus Pallidus C0017651
DISO_to_PHYS34img Mutation C0026882
DISO_to_ANAT31img Hand C0018563
DISO_to_ANAT28img Cortex, Motor C0026607
DISO_to_CHEM27img CHAPERONE MOL C0243041
DISO_to_CHEM27img Molecular Chaperones C0243041
DISO_to_DISO26img Complication Aspects C1171258
DISO_to_DISO24img Dystonia C0013421
DISO_to_ANAT22img Brain C0006104
DISO_to_DISO22img Parkinsonian Disorders C0242422
DISO_to_DISO21img DIS OCCUP C0028797
DISO_to_CHEM20img Botulinum Toxin Type A C0006050
DISO_to_CHEM19img CHAPERONE MOL C0243041
DISO_to_CHEM19img Sarcoglycans C1449965
DISO_to_CHEM18img Agents, Neuromuscular C0027865
DISO_to_CHEM18img Botulinum Toxin Type A C0006050
DISO_to_CHEM18img Botulinum Toxins C0006055
DISO_to_DISO18img chemically induced C0007994
DISO_to_PHYS18img Mutation C0026882
DISO_to_ANAT17img Cortex, Motor C0026607
DISO_to_CHEM17img GTP Cyclohydrolase C0018293
Genes (74)

Species:
human : 74
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGDF6392255growth differentiation factor 6
INFERRED, Score=800, UMLKSK CUI: C0393593
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
img GENERIF, Score=839, Pubmed Id: 18243799, UMLKSK CUI: C0393593
HumanARX170302aristaless related homeobox
img OMIM, Score=1000, UMLKSK CUI: C0393593
img GENERIF, Score=1000, Pubmed Id: 15726411, UMLKSK CUI: C0393593
img OMIM, Score=790, UMLKSK CUI: C0393593
HumanC8orf38137682
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanPANK280025pantothenate kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanFA2H79152fatty acid 2-hydroxylase
img GENERIF, Score=1000, Pubmed Id: 19068277, UMLKSK CUI: C0393593
HumanPINK165018PTEN induced putative kinase 1
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanJPH357338junctophilin 3
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanMCOLN157192mucolipin 1
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanTHAP155145THAP domain containing, apoptosis associated protein 1
INFERRED, Score=800, UMLKSK CUI: C0393593
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanCHMP2B25978charged multivesicular body protein 2B
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanPNKD25953paroxysmal nonkinesigenic dyskinesia
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanNUP6223636nucleoporin 62kDa
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanVPS13A23230vacuolar protein sorting 13 homolog A (S. cerevisiae)
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanTREX111277three prime repair exonuclease 1
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanNPC210577Niemann-Pick disease, type C2
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanSGCE8910sarcoglycan, epsilon
img GAD, Score=1000, Pubmed Id: 15728306, UMLKSK CUI: C0393593
img OMIM, Score=1000, UMLKSK CUI: C0393593
img GAD, Score=1000, Pubmed Id: 15679701, UMLKSK CUI: C0393593
img GENERIF, Score=1000, Pubmed Id: 18175340, UMLKSK CUI: C0393593
img GENERIF, Score=1000, Pubmed Id: 16534121, UMLKSK CUI: C0393593
HumanPLA2G68398phospholipase A2, group VI (cytosolic, calcium-independent)
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanPDHX8050pyruvate dehydrogenase complex, component X
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanCNBP7555CCHC-type zinc finger, nucleic acid binding protein
img OMIM, Score=790, UMLKSK CUI: C0393593
HumanVCP7415valosin containing protein
img OMIM, Score=1000, UMLKSK CUI: C0393593
HumanTH7054tyrosine hydroxylase
img GENERIF, Score=861, Pubmed Id: 12891655, UMLKSK CUI: C0393593
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0393593Dystonic Disorders0self