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 - Ataxia Telangiectasia
Debug Stats
  • ### Total Build Time: 523 ms 60.347 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 314 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=4 ms Completed: 4 ms rowSize= 2.711 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=222 ms Completed: 222 ms rowSize= 19.701 KB
  • CONCEPT_RELATIONSHIPS gt=264 ms Completed: 264 ms rowSize= 14.558 KB
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 21.364 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ataxia Telangiectasia C0004135
Definition (1)
A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an increased risk of cancer.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (6)
img Immunologic Deficiency Syndromes C0021051
img DNA Repair-Deficiency Disorders C1563696
img Spinocerebellar Ataxias C0087012
img Genetic Diseases, Inborn C0950123
img Telangiectasis C0039446
img Neurocutaneous Syndromes C0265316
Ancestral Roots
RootRoot Plus OneDepthParent
img Immune System Diseases C0021053img Immunologic Deficiency Syndromes C00210513img Immunologic Deficiency Syndromes C0021051
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img DNA Repair-Deficiency Disorders C1563696
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Spinocerebellar Ataxias C0087012
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248516img Spinocerebellar Ataxias C0087012
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Spinocerebellar Ataxias C0087012
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Spinocerebellar Ataxias C0087012
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370888img Spinocerebellar Ataxias C0087012
img Nervous System Diseases C0027765img Neurologic Manifestations C00278547img Spinocerebellar Ataxias C0087012
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076828img Spinocerebellar Ataxias C0087012
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Cardiovascular Diseases C0007222img Vascular Diseases C00423734img Telangiectasis C0039446
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Neurocutaneous Syndromes C0265316
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Neurocutaneous Syndromes C0265316
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Neurocutaneous Syndromes C0265316
img Nervous System Diseases C0027765img Neurocutaneous Syndromes C02653163img Neurocutaneous Syndromes C0265316
Relationships (86)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 10
diso_​to_​diso : 64
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 28
associated_​genetic_​condition : 2
associated_​with : 1
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​finding_​of_​disease : 1
manifestation_​of : 44
mapped_​to : 1
may_​be_​associated_​disease_​of_​disease : 2
related_​to : 5
use : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN127img genetic aspects C0017399
DISO_to_PHEN104img genetic aspects C0017399
DISO_to_CHEM68img Protein-Serine-Threonine Kinases C0072402
DISO_to_CHEM49img Binding Protein, DNA C0012940
DISO_to_CHEM48img Cell Cycle Protein C0243021
DISO_to_CHEM48img Protein-Serine-Threonine Kinases C0072402
DISO_to_DISO48img Complication Aspects C1171258
DISO_to_CHEM46img Proteins, Tumor Suppressor C0597611
DISO_to_CHEM33img Binding Protein, DNA C0012940
DISO_to_CHEM29img Cell Cycle Protein C0243021
DISO_to_DISO29img Complication Aspects C1171258
DISO_to_CHEM25img Proteins, Tumor Suppressor C0597611
DISO_to_DISO22img DNA Damage C0012860
DISO_to_PHYS22img Mutation C0026882
DISO_to_DISO13img DNA Damage C0012860
DISO_to_PHYS13img Mutation C0026882
DISO_to_DISO11img Breast Neoplasms C1458155
DISO_to_ANAT10img In Blood C0005768
DISO_to_DISO10img Oxidative Stress C0242606
DISO_to_ANAT8img Lymphocyte C0024264
DISO_to_ANAT8img Neurons C0027882
DISO_to_PHYS8img DNA Damage Repair C0012899
DISO_to_ANAT7img Fibroblasts C0016030
DISO_to_CHEM7img Nuclear Proteins C0028589
DISO_to_DISO7img Breast Neoplasms C1458155
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanNLRP255655NLR family, pyrin domain containing 2
img GENERIF, Score=1000, Pubmed Id: 17431132, UMLKSK CUI: C0004135
HumanZNF1487707zinc finger protein 148
img GENERIF, Score=1000, Pubmed Id: 17560543, UMLKSK CUI: C0004135
HumanTYR7299tyrosinase
img GENERIF, Score=1000, Pubmed Id: 18791269, UMLKSK CUI: C0004135
HumanTERT7015telomerase reverse transcriptase
img GENERIF, Score=673, Pubmed Id: 14570874, UMLKSK CUI: C0004135
HumanTERC7012telomerase RNA component
img GENERIF, Score=1000, Pubmed Id: 17098743, UMLKSK CUI: C0004135
HumanRPS6KA36197ribosomal protein S6 kinase, 90kDa, polypeptide 3
img GENERIF, Score=1000, Pubmed Id: 12562765, UMLKSK CUI: C0004135
HumanUPF15976UPF1 regulator of nonsense transcripts homolog (yeast)
img GENERIF, Score=1000, Pubmed Id: 16086026, UMLKSK CUI: C0004135
HumanPMS25395PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
img GENERIF, Score=1000, Pubmed Id: 15226443, UMLKSK CUI: C0004135
HumanNBN4683nibrin
img GENERIF, Score=1000, Pubmed Id: 15616588, UMLKSK CUI: C0004135
HumanMRE11A4361MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
img GENERIF, Score=901, Pubmed Id: 15269180, UMLKSK CUI: C0004135
img GENERIF, Score=901, Pubmed Id: 18652530, UMLKSK CUI: C0004135
img GENERIF, Score=840, Pubmed Id: 15574463, UMLKSK CUI: C0004135
HumanMCM74176minichromosome maintenance complex component 7
img GENERIF, Score=1000, Pubmed Id: 15210935, UMLKSK CUI: C0004135
HumanHPRT13251hypoxanthine phosphoribosyltransferase 1
img GENERIF, Score=673, Pubmed Id: 11714443, UMLKSK CUI: C0004135
HumanH2AFX3014H2A histone family, member X
img GENERIF, Score=1000, Pubmed Id: 17594478, UMLKSK CUI: C0004135
HumanCDKN1A1026cyclin-dependent kinase inhibitor 1A (p21, Cip1)
img GENERIF, Score=1000, Pubmed Id: 16952553, UMLKSK CUI: C0004135
img GENERIF, Score=1000, Pubmed Id: 17560543, UMLKSK CUI: C0004135
HumanBCL6604B-cell CLL/lymphoma 6
img GENERIF, Score=1000, Pubmed Id: 17558410, UMLKSK CUI: C0004135
HumanATR545ataxia telangiectasia and Rad3 related
img OMIM, Score=1000, UMLKSK CUI: C0004135
HumanATM472ataxia telangiectasia mutated
Click here to display 16 evidence detail records.
HumanAKT1207v-akt murine thymoma viral oncogene homolog 1
img GENERIF, Score=1000, Pubmed Id: 18413665, UMLKSK CUI: C0004135
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0004135Ataxia Telangiectasia0self