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Details
Link-It Detail - Disease - Adenylosuccinate lyase deficiency (disorder)
Debug Stats
  • ### Total Build Time: 27 ms 17.211 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 386 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 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=23 ms Completed: 23 ms rowSize= 12.514 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 3.072 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.178 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Adenylosuccinate lyase deficiency (disorder) C0268126
Relationships (50)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 48


Relationships:
alias_​of : 1
associated_​with : 3
manifestation_​of : 46
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEMassociated_withimg ADENYLOSUCCINATE LYASE C0001502
DISO_to_CHEMassociated_withimg Adenylosuccinate Lyase C0001502
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ATAXIC GAIT C0751837
DISO_to_DISOmanifestation_ofimg ATROPHY MUSCLE C0026846
DISO_to_DISOmanifestation_ofimg Adenylosuccinase deficiency (finding) C2676173
DISO_to_DISOalias_ofimg Adenylosuccinate lyase deficiency (disorder) C0268126
DISO_to_DISOmanifestation_ofimg Aggression C0001807
DISO_to_DISOmanifestation_ofimg Anteverted nostrils C1837721
DISO_to_DISOmanifestation_ofimg Autistic features C1846135
DISO_to_DISOmanifestation_ofimg BRACHYCEPHALY C0221356
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Brisk reflexes C2673700
DISO_to_DISOmanifestation_ofimg Caused by mutation in the adenylosuccinate lyase gene (ADSL, 608222.0001) C3150010
DISO_to_DISOmanifestation_ofimg Cerebellar atrophy C0740279
DISO_to_DISOmanifestation_ofimg Decreased S-Ado:SAICAr ratio C2676172
DISO_to_DISOmanifestation_ofimg Disorder characterised by myoclonus C0027066
DISO_to_DISOmanifestation_ofimg Growth retardation C0151686
DISO_to_DISOmanifestation_ofimg Happy demeanor (reported in 1 family) C2676168
DISO_to_DISOmanifestation_ofimg Highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features C2676176
DISO_to_DISOmanifestation_ofimg Hyperactive behavior C0424295
DISO_to_DISOmanifestation_ofimg Hyperkinesis C0424295
DISO_to_DISOmanifestation_ofimg Hypomyelination C0544820
DISO_to_DISOmanifestation_ofimg Inability to walk C0560046
DISO_to_DISOmanifestation_ofimg Inappropriate laughter (reported in 1 family) C2676169
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanGABPB12553GA binding protein transcription factor, beta subunit 1
img GENERIF, Score=1000, Pubmed Id: 12016589, UMLKSK CUI: C0268126
HumanADSL158adenylosuccinate lyase
img OMIM, Score=1000, UMLKSK CUI: C0268126
img GENERIF, Score=1000, Pubmed Id: 15571235, UMLKSK CUI: C0268126
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268126Adenylosuccinate lyase deficiency (disorder)0self