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Details
Link-It Detail - Disease - alpha-Thalassemia
Debug Stats
  • ### Total Build Time: 47 ms 47.265 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 343 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=2 ms Completed: 2 ms rowSize= 547 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 553 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.091 KB
  • CONCEPT_RELATIONSHIPS gt=25 ms Completed: 24 ms rowSize= 14.286 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 25.792 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
alpha-Thalassemia C0002312
Definition (1)
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Thalassemia C0039730
Children (1)
img Hydrops Fetalis C0020305
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 (43)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 6
diso_​to_​diso : 21
diso_​to_​gene : 4
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 19
gene_​associated_​with_​disease : 4
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 6
mapped_​to : 9
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN275img genetic aspects C0017399
DISO_to_PHEN215img genetic aspects C0017399
DISO_to_CHEM85img Abnormal Hemoglobins C0019047
DISO_to_ANAT75img In Blood C0005768
DISO_to_CHEM62img Globin C0017645
DISO_to_DISO60img Complication Aspects C1171258
DISO_to_DISO58img beta Thalassemia C0005283
DISO_to_ANAT49img In Blood C0005768
DISO_to_CHEM49img alpha-Globins C0002270
DISO_to_CHEM43img Abnormal Hemoglobins C0019047
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_DISO39img beta Thalassemia C0005283
DISO_to_PHYS31img Mutation C0026882
DISO_to_CHEM24img Hemoglobin H C0019026
DISO_to_PHYS23img Gene Deletion C0017260
DISO_to_PHYS22img Gene Deletion C0017260
DISO_to_PHYS18img Mutation, Point C0162735
DISO_to_DISO17img Hydrops Fetalis C0020305
DISO_to_PHYS17img Mutation C0026882
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Hemoglobin Subunit Alpha C0544482
DISO_to_DISOmapped_toimg ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME C0585216
DISO_to_DISOmapped_toimg ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED C1845055
Genes (27)

Species:
human : 27
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanCDAN1146059codanin 1
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanHBA@83587
img GENERIF, Score=827, Pubmed Id: 12185510, UMLKSK CUI: C0002312
img GENERIF, Score=734, Pubmed Id: 11939513, UMLKSK CUI: C0002312
HumanHBB@64162
img GENERIF, Score=827, Pubmed Id: 12185510, UMLKSK CUI: C0002312
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanSLC17A526503solute carrier family 17 (acidic sugar transporter), member 5
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanBSND7809Bartter syndrome, infantile, with sensorineural deafness (Barttin)
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanTALDO16888transaldolase 1
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanPTH1R5745parathyroid hormone 1 receptor
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanPKLR5313pyruvate kinase, liver and RBC
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanNEU14758sialidase 1 (lysosomal sialidase)
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanHBD3045hypophosphatemic bone disease
img GENERIF, Score=923, Pubmed Id: 15449937, UMLKSK CUI: C0002312
HumanHBB3043hemoglobin, beta
img GENERIF, Score=1000, Pubmed Id: 18026953, UMLKSK CUI: C0002312
img GENERIF, Score=1000, Pubmed Id: 11833853, UMLKSK CUI: C0002312
img GENERIF, Score=1000, Pubmed Id: 17920577, UMLKSK CUI: C0002312
HumanHBA23040hemoglobin, alpha 2
img GENERIF, Score=1000, Pubmed Id: 12730694, UMLKSK CUI: C0002312
img GENERIF, Score=734, Pubmed Id: 12779276, UMLKSK CUI: C0002312
img GENERIF, Score=1000, Pubmed Id: 16103716, UMLKSK CUI: C0002312
img GENERIF, Score=1000, Pubmed Id: 18026953, UMLKSK CUI: C0002312
HumanHBA13039hemoglobin, alpha 1
img GENERIF, Score=1000, Pubmed Id: 11833853, UMLKSK CUI: C0002312
img GENERIF, Score=694, Pubmed Id: 16466950, UMLKSK CUI: C0002312
img GENERIF, Score=1000, Pubmed Id: 18654888, UMLKSK CUI: C0002312
HumanHADHB3032hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanHADHA3030hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanGUSB2990glucuronidase, beta
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanGLE12733GLE1 RNA export mediator
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanGBE12632glucan (1,4-alpha-), branching enzyme 1
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanGBA2629glucosidase, beta, acid
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanFLT42324fms-related tyrosine kinase 4
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanERBB32065v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanSLC26A21836solute carrier family 26 (anion exchanger), member 2
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanCOL2A11280collagen, type II, alpha 1
INFERRED, Score=800, UMLKSK CUI: C0002312
HumanCLCNKB1188chloride channel, voltage-sensitive Kb
INFERRED, Score=800, UMLKSK CUI: C0002312
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002312alpha-Thalassemia0self