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Details
Link-It Detail - Disease - MACROCEPHALY
Debug Stats
  • ### Total Build Time: 55 ms 26.082 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 322 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=5 ms Completed: 5 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=35 ms Completed: 35 ms rowSize= 24.447 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
MACROCEPHALY C0266482
Genes (69)

Species:
human : 69
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanBRWD3254065bromodomain and WD repeat domain containing 3
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanZNF46984627zinc finger protein 469
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanOSTM128962osteopetrosis associated transmembrane protein 1
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanMLC123209megalencephalic leukoencephalopathy with subcortical cysts 1
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanB4GALT711285xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanEIF2B58893eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanEIF2B28892eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanEIF2B38891eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanEIF2B48890eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanSYN16853synapsin I
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanSOX96662SRY (sex determining region Y)-box 9
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanPEX55830peroxisomal biogenesis factor 5
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanPEX195824peroxisomal biogenesis factor 19
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanPTEN5728phosphatase and tensin homolog
img OMIM, Score=1000, UMLKSK CUI: C0266482
img OMIM, Score=1000, UMLKSK CUI: C0266482
HumanMAP2K25605mitogen-activated protein kinase kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0266482
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0266482MACROCEPHALY0self