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 - Maxillofacial Abnormalities
Debug Stats
  • ### Total Build Time: 56 ms 36.492 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 267 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1,015 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 982 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.492 KB
  • CONCEPT_RELATIONSHIPS gt=14 ms Completed: 14 ms rowSize= 9.040 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 18.030 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Maxillofacial Abnormalities C0524948
Definition (1)
Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Craniofacial Abnormalities C0376634
img Stomatognathic System Abnormalities C0243057
Children (2)
img Jaw Abnormalities C0022360
img Cherubism C0008029
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430573img Stomatognathic System Abnormalities C0243057
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Stomatognathic System Abnormalities C0243057
Relationships (22)

Relation Types:
diso_​to_​anat : 6
diso_​to_​diso : 15
diso_​to_​phen : 1


Relationships:
none : 15
entry_​version_​of : 1
mapped_​to : 6
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT13img Maxilla C0024947
DISO_to_ANAT12img Mandible C0024687
DISO_to_DISO12img Abnormalities, Multiple C0000772
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_DISO11img Malocclusion C0024636
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_ANAT7img Maxilla C0024947
DISO_to_DISO7img Malocclusion C0024636
DISO_to_DISO6img ABNORM TEETH C0040427
DISO_to_ANAT5img Bone structure of face C0015455
DISO_to_ANAT5img Face C0015450
DISO_to_ANAT5img Nose C0028429
DISO_to_DISO5img ABNORM TEETH C0040427
DISO_to_DISO5img Abnormalities, Multiple C0000772
DISO_to_DISOentry_version_ofimg ABNORM MAXILLOFACIAL C0524948
DISO_to_DISOmapped_toimg ABRUZZO-ERICKSON SYNDROME C1844862
DISO_to_DISOmapped_toimg Ackerman syndrome C1860167
DISO_to_DISOmapped_toimg BINDER SYNDROME C0220692
DISO_to_DISOmapped_toimg Bifid Nose, Autosomal Dominant C2751431
DISO_to_DISOmapped_toimg COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY C1849334
DISO_to_DISOmapped_toimg OBLFC1 C1838348
Genes (173)

Species:
human : 173
Page Size
Current 25
  Page 1 of 7
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanPROKR2128674prokineticin receptor 2
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanPUS180324pseudouridylate synthase 1
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanFRAS180144Fraser syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanSTRA664220stimulated by retinoic acid 6
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanALX460529ALX homeobox 4
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanFAM20C56975family with sequence similarity 20, member C
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanANKH56172ANKH inorganic pyrophosphate transport regulator
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanGSDMC56169gasdermin C
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanCHD755636chromodomain helicase DNA binding protein 7
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanBCOR54880BCL6 corepressor
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanDYM54808dymeclin
INFERRED, Score=800, UMLKSK CUI: C0524948
HumanSOST50964sclerostin
INFERRED, Score=800, UMLKSK CUI: C0524948
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0524948Maxillofacial Abnormalities0self