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 - CEREBELLAR HYPOPLASIA
Debug Stats
  • ### Total Build Time: 21 ms 23.136 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 397 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=6 ms Completed: 6 ms rowSize= 3.740 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 17.450 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CEREBELLAR HYPOPLASIA C0266470
Definition (1)
Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
Relationships (6)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 3


Relationships:
associated_​with : 1
is_​associated_​anatomic_​site_​of : 2
isa : 2
location_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Central Nervous System C0927232
DISO_to_ANATlocation_ofimg Cerebellum C0007765
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOassociated_withimg 213 CONGENITAL HYPOPLASIAS C0020636
DISO_to_DISOisaimg Congenital hypoplasia of inner granular layer of cerebellum C0266467
DISO_to_DISOisaimg Congenital pontocerebellar hypoplasia C0266468
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanTSEN54283989TSEN54 tRNA splicing endonuclease subunit
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanPOMT229954protein-O-mannosyltransferase 2
img GENERIF, Score=1000, Pubmed Id: 18513969, UMLKSK CUI: C0266470
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanGPR569289G protein-coupled receptor 56
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanVLDLR7436very low density lipoprotein receptor
img GENERIF, Score=861, Pubmed Id: 16080122, UMLKSK CUI: C0266470
HumanRAPSN5913receptor-associated protein of the synapse
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanPMM25373phosphomannomutase 2
img GENERIF, Score=1000, Pubmed Id: 17694350, UMLKSK CUI: C0266470
HumanPLG5340plasminogen
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanOPHN14983oligophrenin 1
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanHSD17B43295hydroxysteroid (17-beta) dehydrogenase 4
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanERCC52073excision repair cross-complementing rodent repair deficiency, complementation group 5
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanEN22020engrailed homeobox 2
img GENERIF, Score=1000, Pubmed Id: 11815869, UMLKSK CUI: C0266470
HumanDKC11736dyskeratosis congenita 1, dyskerin
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanBUB1B701BUB1 mitotic checkpoint serine/threonine kinase B
img OMIM, Score=1000, UMLKSK CUI: C0266470
HumanACAA130acetyl-CoA acyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0266470
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0266470CEREBELLAR HYPOPLASIA0self