Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - DKCB1
Debug Stats
  • ### Total Build Time: 71 ms 15.490 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 308 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=52 ms Completed: 52 ms rowSize= 12.443 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 1.536 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.140 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
DKCB1 C1857144
Relationships (31)

Relation Types:
diso_​to_​diso : 31


Relationships:
expanded_​form_​of : 1
manifestation_​of : 30
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Abnormal dentition (classic features, NOLA3 patient) C3278101
DISO_to_DISOmanifestation_ofimg Anemia, Aplastic C0002874
DISO_to_DISOmanifestation_ofimg Bone Marrow Failure C0030312
DISO_to_DISOmanifestation_ofimg Bone marrow failure (classic feature, NOLA3 patient) C3278106
DISO_to_DISOmanifestation_ofimg Caused by mutation in the nucleolar protein family A, member 3 gene (NOLA3, 606471.0001) C2673713
DISO_to_DISOmanifestation_ofimg Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia C1844648
DISO_to_DISOexpanded_form_ofimg DKCB1 C1857144
DISO_to_DISOmanifestation_ofimg Dental caries (classic feature) C3278103
DISO_to_DISOmanifestation_ofimg Epiphora (classic feature) C3278097
DISO_to_DISOmanifestation_ofimg Esophageal stricture (classic feature) C3278094
DISO_to_DISOmanifestation_ofimg Hepatic fibrosis (classic feature) C3278093
DISO_to_DISOmanifestation_ofimg Highly variable phenotype C1865012
DISO_to_DISOmanifestation_ofimg Hypoplastic nails C1847195
DISO_to_DISOmanifestation_ofimg Increased risk of malignancy (classic feature) C3278104
DISO_to_DISOmanifestation_ofimg Leukoplakia (classic feature) C3278099
DISO_to_DISOmanifestation_ofimg Longitudinal ridges C1857146
DISO_to_DISOmanifestation_ofimg Median age of diagnosis - 15 years C1844649
DISO_to_DISOmanifestation_ofimg Microcephaly (classic feature) C3278095
DISO_to_DISOmanifestation_ofimg Mutation in NOLA3 found in 1 consanguineous Saudi family (as of May 2011) C3278112
DISO_to_DISOmanifestation_ofimg Nail dystrophy (classic feature, NOLA3 patient) C3278109
DISO_to_DISOmanifestation_ofimg Nasolacrimal duct obstruction (classic feature) C3278098
DISO_to_DISOmanifestation_ofimg Pterygium formation C1844643
DISO_to_DISOmanifestation_ofimg Pulmonary fibrosis (classic feature) C3278111
DISO_to_DISOmanifestation_ofimg Purple tongue discoloration (classic feature) C3278100
DISO_to_DISOmanifestation_ofimg Reticular skin pigmentation (classic feature, NOLA3 patient) C3278107
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanNOP1055505NOP10 ribonucleoprotein
img GENERIF, Score=1000, Pubmed Id: 17507419, UMLKSK CUI: C1857144
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1857144DKCB10self