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Details
Link-It Detail - Disease - Gene Fusion Abnormality
Debug Stats
  • ### Total Build Time: 27 ms 19.963 KB
  • CONCEPT_NAME gt=3 ms Completed: 2 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 493 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=1 ms Completed: 1 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=2 ms Completed: 2 ms rowSize= 1.159 KB
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 16.759 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gene Fusion Abnormality C1705736
Definition (1)
Fusion of two genes or segments of genes that were previously separated prior to a mutation abnormality such as translocation. A gene fusion abnormality results in the formation of a new genetic unit that typically exhibits altered functional characteristics. This type of mutation abnormality can be either heritable or occur somatically.
Relationships (1)

Relation Types:
diso_​to_​gene : 1


Relationships:
allele_​has_​abnormality : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_GENEallele_has_abnormalityimg CYP2D6*16 C1707212
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanSLC45A385414solute carrier family 45, member 3
img GENERIF, Score=901, Pubmed Id: 18172298, UMLKSK CUI: C1705736
HumanTNF7124tumor necrosis factor
img GENERIF, Score=876, Pubmed Id: 16896069, UMLKSK CUI: C1705736
HumanTMPRSS27113transmembrane protease, serine 2
img GENERIF, Score=861, Pubmed Id: 18694509, UMLKSK CUI: C1705736
img GENERIF, Score=901, Pubmed Id: 16575875, UMLKSK CUI: C1705736
img GENERIF, Score=840, Pubmed Id: 17584912, UMLKSK CUI: C1705736
img GENERIF, Score=901, Pubmed Id: 18172298, UMLKSK CUI: C1705736
HumanTFE37030transcription factor binding to IGHM enhancer 3
img GENERIF, Score=673, Pubmed Id: 15747097, UMLKSK CUI: C1705736
img GENERIF, Score=840, Pubmed Id: 18358634, UMLKSK CUI: C1705736
HumanSS186760synovial sarcoma translocation, chromosome 18
img GENERIF, Score=673, Pubmed Id: 16152617, UMLKSK CUI: C1705736
HumanSSX26757synovial sarcoma, X breakpoint 2
img GENERIF, Score=673, Pubmed Id: 16152617, UMLKSK CUI: C1705736
HumanSSX16756synovial sarcoma, X breakpoint 1
img GENERIF, Score=673, Pubmed Id: 16152617, UMLKSK CUI: C1705736
HumanPAX75081paired box 7
img GENERIF, Score=861, Pubmed Id: 12039929, UMLKSK CUI: C1705736
HumanPAX35077paired box 3
img GENERIF, Score=861, Pubmed Id: 12039929, UMLKSK CUI: C1705736
HumanMYH114629myosin, heavy chain 11, smooth muscle
img GENERIF, Score=861, Pubmed Id: 16502584, UMLKSK CUI: C1705736
HumanEWSR12130EWS RNA-binding protein 1
img GENERIF, Score=861, Pubmed Id: 17724745, UMLKSK CUI: C1705736
HumanERG2078v-ets avian erythroblastosis virus E26 oncogene homolog
img GENERIF, Score=861, Pubmed Id: 18694509, UMLKSK CUI: C1705736
HumanCREB11385cAMP responsive element binding protein 1
img GENERIF, Score=861, Pubmed Id: 17724745, UMLKSK CUI: C1705736
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1705736Gene Fusion Abnormality0self