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Details
Link-It Detail - Disease - Familial aplasia of the vermis
Debug Stats
  • ### Total Build Time: 8 ms 16.004 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 371 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=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 13.954 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Familial aplasia of the vermis C0431399
Definition (1)
A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanCEP29080184centrosomal protein 290kDa
img GENERIF, Score=1000, Pubmed Id: 18950740, UMLKSK CUI: C0431399
img GENERIF, Score=694, Pubmed Id: 17564967, UMLKSK CUI: C0431399
img GENERIF, Score=1000, Pubmed Id: 17617513, UMLKSK CUI: C0431399
HumanCC2D2A57545coiled-coil and C2 domain containing 2A
img GENERIF, Score=1000, Pubmed Id: 18950740, UMLKSK CUI: C0431399
HumanAHI154806Abelson helper integration site 1
img GENERIF, Score=694, Pubmed Id: 16453322, UMLKSK CUI: C0431399
img GENERIF, Score=1000, Pubmed Id: 18785627, UMLKSK CUI: C0431399
img GENERIF, Score=734, Pubmed Id: 16155189, UMLKSK CUI: C0431399
img GENERIF, Score=1000, Pubmed Id: 15322546, UMLKSK CUI: C0431399
HumanRPGRIP1L23322RPGRIP1-like
img GENERIF, Score=660, Pubmed Id: 17960139, UMLKSK CUI: C0431399
img GENERIF, Score=1000, Pubmed Id: 17558407, UMLKSK CUI: C0431399
HumanZIC17545Zic family member 1
img GENERIF, Score=1000, Pubmed Id: 14981711, UMLKSK CUI: C0431399
HumanNPHP14867nephronophthisis 1 (juvenile)
img GENERIF, Score=1000, Pubmed Id: 16782989, UMLKSK CUI: C0431399
img OMIM, Score=1000, UMLKSK CUI: C0431399
img GENERIF, Score=1000, Pubmed Id: 15138899, UMLKSK CUI: C0431399
img GAD, Score=1000, Pubmed Id: 15138899, UMLKSK CUI: C0431399
HumanATF4468activating transcription factor 4
img GENERIF, Score=1000, Pubmed Id: 16682973, UMLKSK CUI: C0431399
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0431399Familial aplasia of the vermis0self