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Details
Link-It Detail - Disease - Cerebral ventriculomegaly
Debug Stats
  • ### Total Build Time: 26 ms 11.644 KB
  • CONCEPT_NAME gt=18 ms Completed: 18 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 394 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=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 9.586 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cerebral ventriculomegaly C1531647
Definition (1)
Enlargement of CEREBRAL VENTRICLES. Although it is often isolated without other CNS anomalies it can be associated with other congenital malformations (e.g., ARNOLD-CHIARI MALFORMATION; DANDY-WALKER MALFORMATION, and ACROCALLOSAL SYNDROME).
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanEBP10682emopamil binding protein (sterol isomerase)
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanPOMT110585protein-O-mannosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanLARGE9215like-glycosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanGLB12720galactosidase, beta 1
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanFKTN2218fukutin
img OMIM, Score=1000, UMLKSK CUI: C1531647
HumanCPT21376carnitine palmitoyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C1531647
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1531647Cerebral ventriculomegaly0self