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 - Andersen Syndrome
Debug Stats
  • ### Total Build Time: 34 ms 31.210 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 343 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= 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= 552 bytes
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.390 KB
  • CONCEPT_RELATIONSHIPS gt=22 ms Completed: 22 ms rowSize= 13.017 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 10.235 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Andersen Syndrome C1563715
Definition (1)
A form of long QT syndrome characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Long QT Syndrome C0023976
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Long QT Syndrome C0023976
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430505img Long QT Syndrome C0023976
img Cardiovascular Diseases C0007222img Heart Diseases C00187995img Long QT Syndrome C0023976
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306605img Long QT Syndrome C0023976
Relationships (68)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 63
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 5
alias_​of : 1
manifestation_​of : 62
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN30img genetic aspects C0017399
DISO_to_CHEM19img Potassium Channels, Inwardly Rectifying C0214230
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM10img Potassium Channels, Inwardly Rectifying C0214230
DISO_to_PHYS10img Mutation C0026882
DISO_to_DISOmanifestation_ofimg AGE BONE RETARDED C0541764
DISO_to_DISOmanifestation_ofimg Ageneses, Enamel C0011351
DISO_to_DISOalias_ofimg Andersen Syndrome C1563715
DISO_to_DISOmanifestation_ofimg Antegonial notching of mandible C1844509
DISO_to_DISOmanifestation_ofimg Anterior crossbite C0266058
DISO_to_DISOmanifestation_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOmanifestation_ofimg Bidirectional ventricular ectopy C1969410
DISO_to_DISOmanifestation_ofimg Broad forehead C1855408
DISO_to_DISOmanifestation_ofimg Bulbous nasal tip C1855751
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
DISO_to_DISOmanifestation_ofimg Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 2 gene (KCNJ2, 600681.0001) C1969411
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis C1969412
DISO_to_DISOmanifestation_ofimg Clinodactyly (fifth finger) C1857528
DISO_to_DISOmanifestation_ofimg Condylar resorption C1969405
DISO_to_DISOmanifestation_ofimg Congenital micrognathia C0025990
DISO_to_DISOmanifestation_ofimg Congenital pit, preauricular C0266610
DISO_to_DISOmanifestation_ofimg Copper beaten skull C1969406
DISO_to_DISOmanifestation_ofimg Deciduous teeth retained C0266050
DISO_to_DISOmanifestation_ofimg Delayed eruption of secondary teeth C1853622
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanKCNJ123768potassium inwardly-rectifying channel, subfamily J, member 12
img GENERIF, Score=1000, Pubmed Id: 12032359, UMLKSK CUI: C1563715
HumanKCNJ23759potassium inwardly-rectifying channel, subfamily J, member 2
img GENERIF, Score=1000, Pubmed Id: 16419128, UMLKSK CUI: C1563715
img GENERIF, Score=1000, Pubmed Id: 17341397, UMLKSK CUI: C1563715
img GENERIF, Score=1000, Pubmed Id: 16541386, UMLKSK CUI: C1563715
img GENERIF, Score=1000, Pubmed Id: 17211524, UMLKSK CUI: C1563715
img GENERIF, Score=1000, Pubmed Id: 12163457, UMLKSK CUI: C1563715
img GENERIF, Score=1000, Pubmed Id: 17324964, UMLKSK CUI: C1563715
img GENERIF, Score=756, Pubmed Id: 14522976, UMLKSK CUI: C1563715
img GENERIF, Score=1000, Pubmed Id: 12148092, UMLKSK CUI: C1563715
img GENERIF, Score=1000, Pubmed Id: 18690034, UMLKSK CUI: C1563715
img GENERIF, Score=694, Pubmed Id: 15831539, UMLKSK CUI: C1563715
img GENERIF, Score=1000, Pubmed Id: 12032359, UMLKSK CUI: C1563715
img GENERIF, Score=673, Pubmed Id: 16834334, UMLKSK CUI: C1563715
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1563715Andersen Syndrome0self