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Details
Link-It Detail - Disease - Anemia, Sickle Cell
Debug Stats
  • ### Total Build Time: 101 ms 68.126 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 946 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=17 ms Completed: 17 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1,001 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 1.399 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.450 KB
  • CONCEPT_RELATIONSHIPS gt=32 ms Completed: 32 ms rowSize= 15.303 KB
  • CONCEPT_GENES gt=35 ms Completed: 35 ms rowSize= 42.380 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Anemia, Sickle Cell C0002895
Definition (1)

Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells, which leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.

A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait. A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.

Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hemoglobinopathies C0019045
img Anemia, Hemolytic, Congenital C0002881
Children (3)
img Hemoglobin SC Disease C0019034
img Acute Chest Syndrome C0742343
img Sickle Cell Trait C0037054
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Hemoglobinopathies C0019045
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Hemoglobinopathies C0019045
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189396img Anemia, Hemolytic, Congenital C0002881
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Anemia, Hemolytic, Congenital C0002881
Relationships (155)

Relation Types:
diso_​to_​anat : 20
diso_​to_​chem : 32
diso_​to_​diso : 89
diso_​to_​gene : 3
diso_​to_​phen : 2
diso_​to_​phys : 9


Relationships:
none : 125
classified_​as : 7
clinically_​similar : 5
gene_​associated_​with_​disease : 2
is_​associated_​anatomic_​site_​of : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 6
mapped_​to : 1
may_​treat : 3
related_​to : 2
use : 1
Page Size
Current 25
  Page 1 of 7
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO1123img Complication Aspects C1171258
DISO_to_DISO777img Complication Aspects C1171258
DISO_to_ANAT426img In Blood C0005768
DISO_to_PHEN375img genetic aspects C0017399
DISO_to_ANAT319img In Blood C0005768
DISO_to_PHEN226img genetic aspects C0017399
DISO_to_CHEM139img Hydroxyurea C0020402
DISO_to_DISO127img Pain C0030193
DISO_to_CHEM105img Agents, Antisickling C0003429
DISO_to_DISO92img Hypertension, Pulmonary C0020542
DISO_to_DISO81img beta Thalassemia C0005283
DISO_to_DISO78img Pain C0030193
DISO_to_CHEM77img Hydroxyurea C0020402
DISO_to_ANAT71img Erythrocytes C0014792
DISO_to_DISO71img Cerebrovascular accident C0038454
DISO_to_DISO66img Cerebrovascular accident C0038454
DISO_to_CHEM65img Hemoglobin, Sickle C0019043
DISO_to_CHEM59img Agents, Antisickling C0003429
DISO_to_DISO58img C-132-136 THALASSEMIAS C0039730
DISO_to_ANAT51img Erythrocytes C0014792
DISO_to_DISO49img beta Thalassemia C0005283
DISO_to_CHEM46img Fetal Hemoglobin C0015936
DISO_to_DISO46img Hemolysis C0019054
DISO_to_CHEM45img Hemoglobin, Sickle C0019043
DISO_to_DISO43img COMPL HEMATOL PREGN C0032964
Genes (35)

Species:
human : 35
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanUGT1A154658UDP glucuronosyltransferase 1 family, polypeptide A1
img GENERIF, Score=756, Pubmed Id: 15710570, UMLKSK CUI: C0002895
img GENERIF, Score=1000, Pubmed Id: 12677174, UMLKSK CUI: C0002895
img GAD, Score=1000, Pubmed Id: 12677174, UMLKSK CUI: C0002895
img GENERIF, Score=1000, Pubmed Id: 15388579, UMLKSK CUI: C0002895
img GENERIF, Score=1000, Pubmed Id: 18756540, UMLKSK CUI: C0002895
img GENERIF, Score=1000, Pubmed Id: 12850481, UMLKSK CUI: C0002895
img GENERIF, Score=679, Pubmed Id: 18392554, UMLKSK CUI: C0002895
HumanBCL11A53335B-cell CLL/lymphoma 11A (zinc finger protein)
img GENERIF, Score=1000, Pubmed Id: 18691915, UMLKSK CUI: C0002895
HumanVEGFA7422vascular endothelial growth factor A
img GENERIF, Score=1000, Pubmed Id: 18080800, UMLKSK CUI: C0002895
HumanVCAM17412vascular cell adhesion molecule 1
img GENERIF, Score=1000, Pubmed Id: 12601490, UMLKSK CUI: C0002895
HumanUGT2B77364UDP glucuronosyltransferase 2 family, polypeptide B7
img GENERIF, Score=1000, Pubmed Id: 17724700, UMLKSK CUI: C0002895
HumanNR2C17181nuclear receptor subfamily 2, group C, member 1
img NCI, Score=801, Pubmed Id: 12093744, UMLKSK CUI: C0002895
img NCI, Score=801, Pubmed Id: 12093744, UMLKSK CUI: C0002895
HumanTNFRSF1A7132tumor necrosis factor receptor superfamily, member 1A
img GENERIF, Score=1000, Pubmed Id: 15586174, UMLKSK CUI: C0002895
HumanTNF7124tumor necrosis factor
img GENERIF, Score=1000, Pubmed Id: 17600229, UMLKSK CUI: C0002895
HumanSLC16A16566solute carrier family 16 (monocarboxylate transporter), member 1
INFERRED, Score=800, UMLKSK CUI: C0002895
HumanSELL6402selectin L
img GENERIF, Score=1000, Pubmed Id: 18665829, UMLKSK CUI: C0002895
HumanPGF5228placental growth factor
img GENERIF, Score=1000, Pubmed Id: 12714517, UMLKSK CUI: C0002895
HumanNOS34846nitric oxide synthase 3 (endothelial cell)
img GAD, Score=1000, Pubmed Id: 14687036, UMLKSK CUI: C0002895
HumanNOS14842nitric oxide synthase 1 (neuronal)
img GAD, Score=1000, Pubmed Id: 11751185, UMLKSK CUI: C0002895
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
img GENERIF, Score=1000, Pubmed Id: 16987799, UMLKSK CUI: C0002895
img GAD, Score=1000, Pubmed Id: 15481892, UMLKSK CUI: C0002895
img GENERIF, Score=1000, Pubmed Id: 16906320, UMLKSK CUI: C0002895
HumanMPO4353myeloperoxidase
img GENERIF, Score=1000, Pubmed Id: 15996936, UMLKSK CUI: C0002895
HumanBCAM4059basal cell adhesion molecule (Lutheran blood group)
img GENERIF, Score=1000, Pubmed Id: 14755370, UMLKSK CUI: C0002895
img GENERIF, Score=1000, Pubmed Id: 18514010, UMLKSK CUI: C0002895
HumanLTF4057lactotransferrin
img GENERIF, Score=1000, Pubmed Id: 15297857, UMLKSK CUI: C0002895
HumanIGFBP33486insulin-like growth factor binding protein 3
img GENERIF, Score=1000, Pubmed Id: 17396438, UMLKSK CUI: C0002895
HumanIGF1R3480insulin-like growth factor 1 receptor
img GENERIF, Score=1000, Pubmed Id: 16886151, UMLKSK CUI: C0002895
HumanIGF13479insulin-like growth factor 1 (somatomedin C)
img GENERIF, Score=1000, Pubmed Id: 17396438, UMLKSK CUI: C0002895
HumanICAM43386intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)
img GENERIF, Score=1000, Pubmed Id: 17609430, UMLKSK CUI: C0002895
HumanHLA-DRB13123
img GAD, Score=1000, Pubmed Id: 11872237, UMLKSK CUI: C0002895
img GENERIF, Score=717, Pubmed Id: 18312480, UMLKSK CUI: C0002895
HumanHLA-DQB13119
img GAD, Score=1000, Pubmed Id: 11872237, UMLKSK CUI: C0002895
img GENERIF, Score=717, Pubmed Id: 18312480, UMLKSK CUI: C0002895
HumanHBB3043hemoglobin, beta
img GAD, Score=1000, Pubmed Id: 14587041, UMLKSK CUI: C0002895
img GENERIF, Score=756, Pubmed Id: 18257074, UMLKSK CUI: C0002895
img GAD, Score=1000, Pubmed Id: 12581188, UMLKSK CUI: C0002895
img GAD, Score=1000, Pubmed Id: 14529320, UMLKSK CUI: C0002895
HumanHBA13039hemoglobin, alpha 1
img NCI, Score=801, Pubmed Id: 6670118, UMLKSK CUI: C0002895
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002895Anemia, Sickle Cell0self