Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Pantothenate Kinase-Associated Neurodegeneration
Debug Stats
  • ### Total Build Time: 36 ms 31.744 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 451 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 324 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=3 ms Completed: 3 ms rowSize= 1.854 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 6.749 KB
  • CONCEPT_RELATIONSHIPS gt=16 ms Completed: 16 ms rowSize= 13.669 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 7.315 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.182 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Pantothenate Kinase-Associated Neurodegeneration C0018523
Hallervorden-Spatz Syndrome
Definition (1)
A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition, lewy body (LB)-like intraneuronal inclusions and neurofibrillary tangles.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Basal Ganglia Diseases C0004782
img Neuroaxonal Dystrophies C0338473
img Movement Disorders C0026650
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Basal Ganglia Diseases C0004782
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Neuroaxonal Dystrophies C0338473
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Movement Disorders C0026650
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (62)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 2
diso_​to_​diso : 54
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 5
alias_​of : 1
is_​associated_​anatomic_​site_​of : 2
manifestation_​of : 54
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_CHEM26img PHOSPHOTRANSFERASES ALCOHOL C0206338
DISO_to_PHEN23img genetic aspects C0017399
DISO_to_CHEM22img PHOSPHOTRANSFERASES ALCOHOL C0206338
DISO_to_ANAT13img Brain C0006104
DISO_to_ANATis_associated_anatomic_site_ofimg Central Nervous System C0927232
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOmanifestation_ofimg AKINESIA C0085623
DISO_to_DISOmanifestation_ofimg APRAXIA OF EYELID OPENING C1864184
DISO_to_DISOmanifestation_ofimg Allelic to the less severe HARP syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis C3150337
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later C1856219
DISO_to_DISOmanifestation_ofimg Axonal 'spheroid' inclusions in the CNS C1856211
DISO_to_DISOmanifestation_ofimg Axonal swelling or thickening in the CNS C1856210
DISO_to_DISOmanifestation_ofimg Blepharospasm C0005747
DISO_to_DISOmanifestation_ofimg CHOREOATHETOSIS C0085583
DISO_to_DISOmanifestation_ofimg Caused by mutation in the pantothenate kinase-2 gene (PANK2, 607157.0001) C1856216
DISO_to_DISOmanifestation_ofimg Classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years C1856218
DISO_to_DISOmanifestation_ofimg Clinically classified into classic, atypical, and intermediate phenotypes C1856217
DISO_to_DISOmanifestation_ofimg Corticospinal signs (87% of patients in 1 report) C1856206
DISO_to_DISOmanifestation_ofimg DEGENERATION OF RETINA C0035304
DISO_to_DISOmanifestation_ofimg Decreased muscle mass C1837466
DISO_to_DISOmanifestation_ofimg Deglutition Disorders C0011168
DISO_to_DISOmanifestation_ofimg Dementia, progressive C0743039
DISO_to_DISOmanifestation_ofimg Depressed mood C0344315
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanPANK280025pantothenate kinase 2
img GENERIF, Score=1000, Pubmed Id: 14639680, UMLKSK CUI: C0018523
img GENERIF, Score=937, Pubmed Id: 18239249, UMLKSK CUI: C0018523
img GENERIF, Score=1000, Pubmed Id: 17903678, UMLKSK CUI: C0018523
img GENERIF, Score=923, Pubmed Id: 15659606, UMLKSK CUI: C0018523
img OMIM, Score=1000, UMLKSK CUI: C0018523
img GENERIF, Score=1000, Pubmed Id: 15747360, UMLKSK CUI: C0018523
img GENERIF, Score=1000, Pubmed Id: 15390030, UMLKSK CUI: C0018523
img GENERIF, Score=1000, Pubmed Id: 18006953, UMLKSK CUI: C0018523
HumanPLA2G68398phospholipase A2, group VI (cytosolic, calcium-independent)
img OMIM, Score=882, UMLKSK CUI: C0018523
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0018523Pantothenate Kinase-Associated Neurodegeneration0self