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Details
Link-It Detail - Disease - Chromosomal Rearrangement
Debug Stats
  • ### Total Build Time: 15 ms 21.251 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=8 ms Completed: 8 ms rowSize= 5.958 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 13.724 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Chromosomal Rearrangement C1516520
Relationships (15)

Relation Types:
diso_​to_​diso : 15


Relationships:
isa : 15
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Chromosomal translocation C0040715
DISO_to_DISOisaimg Chromosome Inversion C0021943
DISO_to_DISOisaimg Rearrangement of 11q C2699012
DISO_to_DISOisaimg Rearrangement of 11q13-21 C1514745
DISO_to_DISOisaimg Rearrangement of 12q13 C1514746
DISO_to_DISOisaimg Rearrangement of 17p11-13 C1514747
DISO_to_DISOisaimg Rearrangement of 1p11-13 C1514748
DISO_to_DISOisaimg Rearrangement of 1p11-q11 C1514749
DISO_to_DISOisaimg Rearrangement of 21q C2699013
DISO_to_DISOisaimg Rearrangement of 2p23 C1514750
DISO_to_DISOisaimg Rearrangement of 3q C2699014
DISO_to_DISOisaimg Rearrangement of 6q13 C1514751
DISO_to_DISOisaimg Rearrangement of 6q25 C1514752
DISO_to_DISOisaimg Rearrangement of 8q11-13 C1514753
DISO_to_DISOisaimg Rearrangement of 8q21 C1514754
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanHMGA28091high mobility group AT-hook 2
img GENERIF, Score=717, Pubmed Id: 18202751, UMLKSK CUI: C1516520
img GENERIF, Score=983, Pubmed Id: 11894114, UMLKSK CUI: C1516520
HumanTP537157tumor protein p53
img GENERIF, Score=884, Pubmed Id: 14757832, UMLKSK CUI: C1516520
HumanTRB@6957
img GENERIF, Score=884, Pubmed Id: 16673021, UMLKSK CUI: C1516520
HumanSIX16495SIX homeobox 1
img GENERIF, Score=901, Pubmed Id: 18666230, UMLKSK CUI: C1516520
HumanSHOX6473short stature homeobox
img GENERIF, Score=1000, Pubmed Id: 14981722, UMLKSK CUI: C1516520
HumanPLAG15324pleiomorphic adenoma gene 1
img GENERIF, Score=983, Pubmed Id: 11894114, UMLKSK CUI: C1516520
HumanMAPT4137microtubule-associated protein tau
img GENERIF, Score=983, Pubmed Id: 17707586, UMLKSK CUI: C1516520
HumanHSP90AA13320heat shock protein 90kDa alpha (cytosolic), class A member 1
img GENERIF, Score=1000, Pubmed Id: 18638579, UMLKSK CUI: C1516520
HumanHMGA13159high mobility group AT-hook 1
img GENERIF, Score=717, Pubmed Id: 18202751, UMLKSK CUI: C1516520
HumanMNX13110motor neuron and pancreas homeobox 1
img GENERIF, Score=983, Pubmed Id: 15772702, UMLKSK CUI: C1516520
HumanF82157coagulation factor VIII, procoagulant component
img GENERIF, Score=884, Pubmed Id: 17823971, UMLKSK CUI: C1516520
HumanDKC11736dyskeratosis congenita 1, dyskerin
img OMIM, Score=866, UMLKSK CUI: C1516520
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1516520Chromosomal Rearrangement0self