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 - Cockayne Syndrome
Debug Stats
  • ### Total Build Time: 31 ms 38.479 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 734 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=4 ms Completed: 4 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=1 ms Completed: 1 ms rowSize= 1.853 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 9.325 KB
  • CONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 9.690 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 15.200 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cockayne Syndrome C0009207
Definition (1)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img DNA Repair-Deficiency Disorders C1563696
img Abnormalities, Multiple C0000772
img Heredodegenerative Disorders, Nervous System C0751870
img Dwarfism C0013336
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img DNA Repair-Deficiency Disorders C1563696
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
img Endocrine System Diseases C0014130img Dwarfism C00133363img Dwarfism C0013336
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Dwarfism C0013336
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Dwarfism C0013336
Relationships (21)

Relation Types:
diso_​to_​chem : 6
diso_​to_​diso : 6
diso_​to_​gene : 6
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 11
gene_​associated_​with_​disease : 6
gene_​product_​malfunction_​associated_​with_​disease : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN55img genetic aspects C0017399
DISO_to_PHEN44img genetic aspects C0017399
DISO_to_CHEM23img DNA Repair Enzymes C1258083
DISO_to_PHYS22img DNA Damage Repair C0012899
DISO_to_CHEM18img DNA Helicases C0920283
DISO_to_DISO14img DNA Damage C0012860
DISO_to_DISO13img Angioma Pigmentosum Atrophicum C0043346
DISO_to_DISO12img Angioma Pigmentosum Atrophicum C0043346
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_CHEM11img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg DNA Excision Repair Protein ERCC-2 C0168553
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg DNA Excision Repair Protein ERCC-5 C1333232
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg DNA Excision Repair Protein ERCC-6 C0211445
DISO_to_DISOpermuted_term_ofimg Cockayne Syndrome C0009207
DISO_to_GENEgene_associated_with_diseaseimg ERCC2 gene C1333356
DISO_to_GENEgene_associated_with_diseaseimg ERCC2 wt Allele C1705972
DISO_to_GENEgene_associated_with_diseaseimg ERCC5 gene C1333359
DISO_to_GENEgene_associated_with_diseaseimg ERCC5 wt Allele C1705470
DISO_to_GENEgene_associated_with_diseaseimg ERCC6 gene C1366757
DISO_to_GENEgene_associated_with_diseaseimg ERCC6 wt Allele C1707866
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanLMNA4000lamin A/C
img GENERIF, Score=983, Pubmed Id: 17090536, UMLKSK CUI: C0009207
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img GENERIF, Score=673, Pubmed Id: 16772382, UMLKSK CUI: C0009207
img GENERIF, Score=734, Pubmed Id: 16916636, UMLKSK CUI: C0009207
img GENERIF, Score=694, Pubmed Id: 12095617, UMLKSK CUI: C0009207
img GENERIF, Score=660, Pubmed Id: 17567611, UMLKSK CUI: C0009207
img GENERIF, Score=1000, Pubmed Id: 16751180, UMLKSK CUI: C0009207
img GENERIF, Score=673, Pubmed Id: 18656484, UMLKSK CUI: C0009207
img GENERIF, Score=673, Pubmed Id: 11809892, UMLKSK CUI: C0009207
img GAD, Score=1000, Pubmed Id: 10767341, UMLKSK CUI: C0009207
img GENERIF, Score=1000, Pubmed Id: 18185538, UMLKSK CUI: C0009207
img OMIM, Score=882, UMLKSK CUI: C0009207
img GENERIF, Score=734, Pubmed Id: 16601682, UMLKSK CUI: C0009207
HumanERCC52073excision repair cross-complementing rodent repair deficiency, complementation group 5
img GENERIF, Score=734, Pubmed Id: 15082767, UMLKSK CUI: C0009207
img GENERIF, Score=694, Pubmed Id: 16246722, UMLKSK CUI: C0009207
HumanERCC22068excision repair cross-complementing rodent repair deficiency, complementation group 2
img GENERIF, Score=1000, Pubmed Id: 18578568, UMLKSK CUI: C0009207
HumanERCC81161excision repair cross-complementing rodent repair deficiency, complementation group 8
img OMIM, Score=666, UMLKSK CUI: C0009207
img GENERIF, Score=1000, Pubmed Id: 16246722, UMLKSK CUI: C0009207
img GENERIF, Score=1000, Pubmed Id: 16751180, UMLKSK CUI: C0009207
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0009207Cockayne Syndrome0self