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 - Angelman Syndrome
Debug Stats
  • ### Total Build Time: 66 ms 34.717 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 738 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= 1.400 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.481 KB
  • CONCEPT_RELATIONSHIPS gt=52 ms Completed: 52 ms rowSize= 13.621 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 11.799 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Angelman Syndrome C0162635
Definition (1)
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Chromosome Disorders C0008626
img Movement Disorders C0026650
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Chromosome Disorders C0008626
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Chromosome Disorders C0008626
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Movement Disorders C0026650
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (68)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 2
diso_​to_​diso : 54
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 19
expanded_​form_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 45
mapped_​to : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN127img genetic aspects C0017399
DISO_to_PHEN111img genetic aspects C0017399
DISO_to_DISO41img Prader-Willi Syndrome C0032897
DISO_to_DISO35img Prader-Willi Syndrome C0032897
DISO_to_CHEM32img Ubiquitin-Protein Ligases C0077678
DISO_to_DISO26img Complication Aspects C1171258
DISO_to_ANAT25img 15 chromosome C0008657
DISO_to_PHYS22img Genomic Imprinting C0242614
DISO_to_PHYS21img Genomic Imprinting C0242614
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_ANAT17img 15 chromosome C0008657
DISO_to_ANAT17img Brain C0006104
DISO_to_CHEM15img Ubiquitin-Protein Ligases C0077678
DISO_to_PHYS11img DNA Methylation C0376452
DISO_to_PHYS10img Mutation C0026882
DISO_to_DISO8img Chromosome Deletion C0008628
DISO_to_DISO8img Intellectual Disability C0025362
DISO_to_DISO7img Uniparental Disomy C0949628
DISO_to_PHYS7img Mutation C0026882
DISO_to_ANATmanifestation_ofimg Occipital groove C0927131
DISO_to_DISOmanifestation_ofimg 2% due to paternal uniparental disomy of 15q11.2-q13 C1862929
DISO_to_DISOmanifestation_ofimg 2-3% due to imprinting defects C1862930
DISO_to_DISOmanifestation_ofimg 25% due to mutations in UBE3A (601623) C1862931
DISO_to_DISOmanifestation_ofimg 70% due to de novo maternal deletion of 15q11.2-q13 C1862928
DISO_to_DISOmanifestation_ofimg Abnormal food-related behaviors C1862921
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
img GENERIF, Score=983, Pubmed Id: 14508708, UMLKSK CUI: C0162635
HumanTUBGCP5114791tubulin, gamma complex associated protein 5
img GENERIF, Score=983, Pubmed Id: 14508708, UMLKSK CUI: C0162635
HumanNIPA281614non imprinted in Prader-Willi/Angelman syndrome 2
img GENERIF, Score=983, Pubmed Id: 14508708, UMLKSK CUI: C0162635
HumanCYFIP123191cytoplasmic FMR1 interacting protein 1
img GENERIF, Score=983, Pubmed Id: 14508708, UMLKSK CUI: C0162635
HumanSLC9A610479solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
img GENERIF, Score=901, Pubmed Id: 18342287, UMLKSK CUI: C0162635
HumanUBE3A7337ubiquitin protein ligase E3A
img GAD, Score=1000, Pubmed Id: 15054837, UMLKSK CUI: C0162635
img GENERIF, Score=1000, Pubmed Id: 12725589, UMLKSK CUI: C0162635
img GENERIF, Score=1000, Pubmed Id: 18487518, UMLKSK CUI: C0162635
img GENERIF, Score=1000, Pubmed Id: 15054837, UMLKSK CUI: C0162635
img GENERIF, Score=1000, Pubmed Id: 14981718, UMLKSK CUI: C0162635
HumanOCA24948oculocutaneous albinism II
img GAD, Score=983, Pubmed Id: 7761348, UMLKSK CUI: C0162635
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img GENERIF, Score=1000, Pubmed Id: 14981718, UMLKSK CUI: C0162635
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162635Angelman Syndrome0self