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Details
Link-It Detail - Disease - Refractory anemia with ringed sideroblasts
Debug Stats
  • ### Total Build Time: 13 ms 28.083 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 382 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 521 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 25.852 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.176 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Refractory anemia with ringed sideroblasts C1264195
Definition (1)
A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. It occurs primarily in older individuals. The median survival exceeds 5 years. (WHO, 2001)
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanMED2581857mediator complex subunit 25
img GENERIF, Score=966, Pubmed Id: 17641689, UMLKSK CUI: C1264195
HumanPRAME23532preferentially expressed antigen in melanoma
img GENERIF, Score=966, Pubmed Id: 16179254, UMLKSK CUI: C1264195
HumanGJB610804gap junction protein, beta 6, 30kDa
img GENERIF, Score=1000, Pubmed Id: 17989577, UMLKSK CUI: C1264195
HumanNCOR19611nuclear receptor corepressor 1
img GENERIF, Score=966, Pubmed Id: 12648520, UMLKSK CUI: C1264195
HumanNCOA18648nuclear receptor coactivator 1
img GENERIF, Score=966, Pubmed Id: 16606617, UMLKSK CUI: C1264195
HumanSUV39H16839suppressor of variegation 3-9 homolog 1 (Drosophila)
img GENERIF, Score=827, Pubmed Id: 16449642, UMLKSK CUI: C1264195
HumanSOX96662SRY (sex determining region Y)-box 9
img GENERIF, Score=661, Pubmed Id: 12420222, UMLKSK CUI: C1264195
HumanRARS5917arginyl-tRNA synthetase
img GENERIF, Score=660, Pubmed Id: 17443684, UMLKSK CUI: C1264195
HumanRARB5915retinoic acid receptor, beta
img GENERIF, Score=661, Pubmed Id: 17686773, UMLKSK CUI: C1264195
img GENERIF, Score=661, Pubmed Id: 17549354, UMLKSK CUI: C1264195
img GENERIF, Score=966, Pubmed Id: 15383624, UMLKSK CUI: C1264195
HumanRARA5914retinoic acid receptor, alpha
img GENERIF, Score=966, Pubmed Id: 17595318, UMLKSK CUI: C1264195
img GENERIF, Score=966, Pubmed Id: 16606617, UMLKSK CUI: C1264195
img GENERIF, Score=827, Pubmed Id: 16449642, UMLKSK CUI: C1264195
img GENERIF, Score=793, Pubmed Id: 17656367, UMLKSK CUI: C1264195
img GENERIF, Score=861, Pubmed Id: 12810556, UMLKSK CUI: C1264195
HumanPTEN5728phosphatase and tensin homolog
img GENERIF, Score=966, Pubmed Id: 17483060, UMLKSK CUI: C1264195
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img GENERIF, Score=966, Pubmed Id: 17483060, UMLKSK CUI: C1264195
HumanPML5371promyelocytic leukemia
img GENERIF, Score=827, Pubmed Id: 16449642, UMLKSK CUI: C1264195
HumanMPL4352myeloproliferative leukemia virus oncogene
img GENERIF, Score=694, Pubmed Id: 18040685, UMLKSK CUI: C1264195
HumanJAK23717Janus kinase 2
img GENERIF, Score=694, Pubmed Id: 16741247, UMLKSK CUI: C1264195
img GENERIF, Score=694, Pubmed Id: 18166783, UMLKSK CUI: C1264195
HumanESR22100estrogen receptor 2 (ER beta)
img GENERIF, Score=966, Pubmed Id: 15383631, UMLKSK CUI: C1264195
HumanCDKN2B1030cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
img GENERIF, Score=694, Pubmed Id: 16682076, UMLKSK CUI: C1264195
HumanCDKN1A1026cyclin-dependent kinase inhibitor 1A (p21, Cip1)
img GENERIF, Score=793, Pubmed Id: 17656367, UMLKSK CUI: C1264195
HumanBMI1648BMI1 polycomb ring finger oncogene
img NCI, Score=801, Pubmed Id: 16160010, UMLKSK CUI: C1264195
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1264195Refractory anemia with ringed sideroblasts0self