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 - Corneal Dystrophy, Juvenile Epithelial of Meesmann
Debug Stats
  • ### Total Build Time: 17 ms 13.920 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 398 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 361 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 567 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.118 KB
  • CONCEPT_RELATIONSHIPS gt=3 ms Completed: 3 ms rowSize= 4.070 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 3.034 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.184 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Corneal Dystrophy, Juvenile Epithelial of Meesmann C0339277
Definition (1)
An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Corneal Dystrophies, Hereditary C0010035
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Corneal Diseases C00100344img Corneal Dystrophies, Hereditary C0010035
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153984img Corneal Dystrophies, Hereditary C0010035
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Corneal Dystrophies, Hereditary C0010035
Relationships (6)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 3
diso_​to_​phen : 1


Relationships:
none : 1
classifies : 1
is_​associated_​anatomic_​site_​of : 2
is_​finding_​of_​disease : 1
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_ANATis_associated_anatomic_site_ofimg Cornea C0010031
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_DISOmapped_toimg Corneal Dystrophy, Juvenile Epithelial of Meesmann C0339277
DISO_to_DISOis_finding_of_diseaseimg Hereditary Lesion C1708351
DISO_to_DISOclassifiesimg Other disease of eye C0497217
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanTGFBI7045transforming growth factor, beta-induced, 68kDa
img OMIM, Score=1000, UMLKSK CUI: C0339277
HumanKRT123859keratin 12
img GENERIF, Score=1000, Pubmed Id: 18661274, UMLKSK CUI: C0339277
img GENERIF, Score=1000, Pubmed Id: 16352477, UMLKSK CUI: C0339277
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0339277Corneal Dystrophy, Juvenile Epithelial of Meesmann0self