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Details
Link-It Detail - Disease - ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
Debug Stats
  • ### Total Build Time: 37 ms 12.212 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 392 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=3 ms Completed: 3 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 10.475 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.181 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT C1876214
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanMLPH79083melanophilin
img GENERIF, Score=694, Pubmed Id: 12897212, UMLKSK CUI: C1876214
HumanUROS7390uroporphyrinogen III synthase
img OMIM, Score=1000, UMLKSK CUI: C1876214
HumanUBE3A7337ubiquitin protein ligase E3A
img OMIM, Score=1000, UMLKSK CUI: C1876214
HumanTYRP17306tyrosinase-related protein 1
img OMIM, Score=1000, UMLKSK CUI: C1876214
HumanSNRPN6638small nuclear ribonucleoprotein polypeptide N
img OMIM, Score=1000, UMLKSK CUI: C1876214
HumanPAX35077paired box 3
img OMIM, Score=1000, UMLKSK CUI: C1876214
img OMIM, Score=882, UMLKSK CUI: C1876214
HumanNDN4692necdin, melanoma antigen (MAGE) family member
img OMIM, Score=1000, UMLKSK CUI: C1876214
HumanMITF4286microphthalmia-associated transcription factor
img OMIM, Score=882, UMLKSK CUI: C1876214
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=1000, UMLKSK CUI: C1876214
HumanCOL4A11282collagen, type IV, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C1876214
HumanATP7A538ATPase, Cu++ transporting, alpha polypeptide
img OMIM, Score=1000, UMLKSK CUI: C1876214
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1876214ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT0self