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Details
Link-It Detail - Disease - Developmental regression
Debug Stats
  • ### Total Build Time: 12 ms 13.451 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 346 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=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=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 11.781 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Developmental regression C1836830
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanNUP6223636nucleoporin 62kDa
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanEIF2B58893eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanEIF2B28892eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanEIF2B38891eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanEIF2B48890eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanST3GAL58869ST3 beta-galactoside alpha-2,3-sialyltransferase 5
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanCDKL56792cyclin-dependent kinase-like 5
img OMIM, Score=882, UMLKSK CUI: C1836830
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=882, UMLKSK CUI: C1836830
HumanGALC2581galactosylceramidase
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanCLN82055ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanEIF2B11967eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanCLN51203ceroid-lipofuscinosis, neuronal 5
img OMIM, Score=1000, UMLKSK CUI: C1836830
HumanTPP11200tripeptidyl peptidase I
img OMIM, Score=1000, UMLKSK CUI: C1836830
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1836830Developmental regression0self