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 - beta-Thalassemia
Debug Stats
  • ### Total Build Time: 68 ms 50.496 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 552 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=3 ms Completed: 3 ms rowSize= 547 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.091 KB
  • CONCEPT_RELATIONSHIPS gt=35 ms Completed: 35 ms rowSize= 13.223 KB
  • CONCEPT_GENES gt=28 ms Completed: 28 ms rowSize= 30.418 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
beta-Thalassemia C0005283
Definition (1)
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Thalassemia C0039730
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Thalassemia C0039730
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Thalassemia C0039730
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189397img Thalassemia C0039730
Relationships (94)

Relation Types:
diso_​to_​anat : 7
diso_​to_​chem : 32
diso_​to_​diso : 40
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 11


Relationships:
none : 74
isa : 11
mapped_​to : 6
may_​treat : 3
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN544img genetic aspects C0017399
DISO_to_DISO434img Complication Aspects C1171258
DISO_to_PHEN396img genetic aspects C0017399
DISO_to_DISO339img Complication Aspects C1171258
DISO_to_ANAT312img In Blood C0005768
DISO_to_ANAT239img In Blood C0005768
DISO_to_CHEM131img Globin C0017645
DISO_to_DISO124img Iron Overload C0282193
DISO_to_CHEM102img beta-Globins C0005221
DISO_to_CHEM98img Iron Chelating Agents C0022086
DISO_to_PHYS86img Mutation C0026882
DISO_to_CHEM82img Iron C0302583
DISO_to_DISO81img Anemia, Sickle Cell C0002895
DISO_to_CHEM68img Iron Chelating Agents C0022086
DISO_to_CHEM65img Globin C0017645
DISO_to_DISO60img Iron Overload C0282193
DISO_to_CHEM59img Hemoglobin E C0019024
DISO_to_DISO58img alpha-Thalassemia C0002312
DISO_to_CHEM56img 1-Amino-6,17-dihydroxy-7,10,18,21-tetraoxo-27-(n-acetylhydroxylamino)-6,11,17,22-tetraazaheptaeicosane C0011145
DISO_to_CHEM56img Deferoxamine C0011145
DISO_to_CHEM52img Abnormal Hemoglobins C0019047
DISO_to_PHYS51img Mutation C0026882
DISO_to_CHEM50img Pyridones C0034260
DISO_to_DISO49img Anemia, Sickle Cell C0002895
DISO_to_CHEM48img Triazole C0040880
Genes (25)

Species:
human : 25
SpeciesGeneGeneIdGene NameEvidence
HumanBCL11A53335B-cell CLL/lymphoma 11A (zinc finger protein)
img GENERIF, Score=734, Pubmed Id: 18245381, UMLKSK CUI: C0005283
img GENERIF, Score=1000, Pubmed Id: 18691915, UMLKSK CUI: C0005283
HumanAHSP51327alpha hemoglobin stabilizing protein
img GENERIF, Score=1000, Pubmed Id: 17874450, UMLKSK CUI: C0005283
img GENERIF, Score=861, Pubmed Id: 14715623, UMLKSK CUI: C0005283
HumanPALLD23022palladin, cytoskeletal associated protein
img GENERIF, Score=1000, Pubmed Id: 15310273, UMLKSK CUI: C0005283
HumanCAP110487CAP, adenylate cyclase-associated protein 1 (yeast)
img GENERIF, Score=818, Pubmed Id: 17900295, UMLKSK CUI: C0005283
HumanTPH17166tryptophan hydroxylase 1
img GENERIF, Score=901, Pubmed Id: 18221792, UMLKSK CUI: C0005283
HumanTFRC7037transferrin receptor (p90, CD71)
img GENERIF, Score=734, Pubmed Id: 18665828, UMLKSK CUI: C0005283
HumanTERT7015telomerase reverse transcriptase
img GENERIF, Score=1000, Pubmed Id: 18466174, UMLKSK CUI: C0005283
HumanSPTBN16711spectrin, beta, non-erythrocytic 1
img GENERIF, Score=1000, Pubmed Id: 15310273, UMLKSK CUI: C0005283
HumanSPTA16708spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
img GENERIF, Score=1000, Pubmed Id: 15310273, UMLKSK CUI: C0005283
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
img GENERIF, Score=1000, Pubmed Id: 15310273, UMLKSK CUI: C0005283
HumanPON15444paraoxonase 1
img GENERIF, Score=861, Pubmed Id: 18236737, UMLKSK CUI: C0005283
img GENERIF, Score=694, Pubmed Id: 17617032, UMLKSK CUI: C0005283
HumanLCN23934lipocalin 2
img GENERIF, Score=734, Pubmed Id: 18375251, UMLKSK CUI: C0005283
HumanKIR3DL13811killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
img GENERIF, Score=1000, Pubmed Id: 17950922, UMLKSK CUI: C0005283
HumanIL83576interleukin 8
img GENERIF, Score=1000, Pubmed Id: 11855786, UMLKSK CUI: C0005283
HumanIL63569interleukin 6 (interferon, beta 2)
img GENERIF, Score=1000, Pubmed Id: 11855786, UMLKSK CUI: C0005283
HumanIGF13479insulin-like growth factor 1 (somatomedin C)
img GENERIF, Score=901, Pubmed Id: 17709895, UMLKSK CUI: C0005283
HumanHLA-DQB13119
img GENERIF, Score=901, Pubmed Id: 12513847, UMLKSK CUI: C0005283
HumanHFE3077hemochromatosis
img GENERIF, Score=694, Pubmed Id: 14703689, UMLKSK CUI: C0005283
HumanHBG23048hemoglobin, gamma G
img GAD, Score=1000, Pubmed Id: 11132233, UMLKSK CUI: C0005283
HumanHBD3045hypophosphatemic bone disease
img GENERIF, Score=734, Pubmed Id: 18603555, UMLKSK CUI: C0005283
img GENERIF, Score=673, Pubmed Id: 15757827, UMLKSK CUI: C0005283
HumanHBB3043hemoglobin, beta
Click here to display 18 evidence detail records.
HumanHBA13039hemoglobin, alpha 1
img GENERIF, Score=734, Pubmed Id: 11833853, UMLKSK CUI: C0005283
HumanGSN2934gelsolin
img GENERIF, Score=1000, Pubmed Id: 15310273, UMLKSK CUI: C0005283
HumanG6PD2539glucose-6-phosphate dehydrogenase
img GENERIF, Score=1000, Pubmed Id: 18164966, UMLKSK CUI: C0005283
HumanANK2287ankyrin 2, neuronal
img GENERIF, Score=1000, Pubmed Id: 15310273, UMLKSK CUI: C0005283
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0005283beta-Thalassemia0self