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Details
Link-It Detail - Disease - Neurofibroma
Debug Stats
  • ### Total Build Time: 325 ms 45.536 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 540 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= 187 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 558 bytes
  • CONCEPT_CHILDREN gt=15 ms Completed: 15 ms rowSize= 1.398 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.332 KB
  • CONCEPT_RELATIONSHIPS gt=240 ms Completed: 240 ms rowSize= 14.701 KB
  • CONCEPT_GENES gt=49 ms Completed: 49 ms rowSize= 21.361 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neurofibroma C0027830
Definition (1)
moderately firm, benign, encapsulated tumor resulting from proliferation of Schwann cells and fibroblasts that includes portions of nerve fibers; tumors usually develop along peripheral or cranial nerves and are a central feature of neurofibromatosis 1, where they may occur intracranially or involve spinal roots. pathologic features include fusiform enlargement of the involved nerve.
Semantic Types (1)
Neoplastic Process (T191)
Parents (1)
img Nerve Sheath Neoplasms C0206727
Children (3)
img Neurofibrosarcoma C0206729
img Neurofibromatoses C0162678
img Neurofibroma, Plexiform C0206728
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Nerve Sheath Neoplasms C0206727
img Neoplasms C0027651img Neoplasms by Site C00276536img Nerve Sheath Neoplasms C0206727
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277665img Nerve Sheath Neoplasms C0206727
img Neoplasms C0027651img Neoplasms by Histologic Type C00276525img Nerve Sheath Neoplasms C0206727
Relationships (66)

Relation Types:
diso_​to_​anat : 13
diso_​to_​chem : 2
diso_​to_​diso : 49
diso_​to_​phen : 2


Relationships:
none : 26
disease_​has_​associated_​disease : 1
eo_​disease_​maps_​to_​human_​disease : 4
is_​abnormal_​cell_​of_​disease : 6
is_​associated_​anatomic_​site_​of : 1
is_​normal_​cell_​origin_​of_​disease : 2
is_​normal_​tissue_​origin_​of_​disease : 2
is_​not_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 20
may_​be_​molecular_​abnormality_​of_​disease : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO43img Neurofibromatosis 1 C0027831
DISO_to_DISO37img Cutaneous tumor C0037286
DISO_to_DISO32img Neurilemmoma C0027809
DISO_to_DISO29img Complication Aspects C1171258
DISO_to_DISO28img Neurilemmoma C0027809
DISO_to_DISO26img Complication Aspects C1171258
DISO_to_DISO26img Cutaneous tumor C0037286
DISO_to_DISO25img Nerve Sheath Neoplasms C0206727
DISO_to_DISO23img Neurofibromatosis 1 C0027831
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_DISO19img Peripheral Nervous System Neoplasms C0031118
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_DISO14img Nerve Sheath Neoplasms C0206727
DISO_to_DISO12img Neoplasm of PNS C0031118
DISO_to_DISO10img Spinal Cord Neoplasms C0037930
DISO_to_DISO10img Spinal Neoplasms C0037939
DISO_to_DISO9img Head and Neck Neoplasms C0018671
DISO_to_DISO9img Neoplasm of Orbit C0029185
DISO_to_DISO8img Mediastinal Neoplasms C0025063
DISO_to_DISO8img Spinal Cord Neoplasms C0037930
DISO_to_ANAT7img Schwann Cells C0036387
DISO_to_CHEM7img Neurofibromatosis Type 1 Protein C0083725
DISO_to_CHEM7img Neurofibromin 1 C0083725
DISO_to_DISO7img Cranial Nerve Neoplasms C0010267
DISO_to_DISO7img Neoplasm of Orbit C0029185
Genes (65)

Species:
human : 65
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSPRED1161742sprouty-related, EVH1 domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanUHMK1127933U2AF homology motif (UHM) kinase 1
img NCI, Score=801, Pubmed Id: 12782393, UMLKSK CUI: C0027830
HumanINHBE83729inhibin, beta E
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanUTP655813UTP6, small subunit (SSU) processome component, homolog (yeast)
img NCI, Score=801, Pubmed Id: 11468690, UMLKSK CUI: C0027830
HumanADAP255803ArfGAP with dual PH domains 2
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanSPA1753340sperm autoantigenic protein 17
img NCI, Score=801, Pubmed Id: 16438728, UMLKSK CUI: C0027830
HumanIL23A51561interleukin 23, alpha subunit p19
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanSUZ1223512SUZ12 polycomb repressive complex 2 subunit
img NCI, Score=801, Pubmed Id: 11468690, UMLKSK CUI: C0027830
HumanSPINK511005serine peptidase inhibitor, Kazal type 5
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanMVP9961major vault protein
img NCI, Score=801, Pubmed Id: 12622134, UMLKSK CUI: C0027830
HumanRGS69628regulator of G-protein signaling 6
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanIQGAP18826IQ motif containing GTPase activating protein 1
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanTP638626tumor protein p63
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanAKAP18165A kinase (PRKA) anchor protein 1
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanSCG27857secretogranin II
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanEZR7430ezrin
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanTNXB7148tenascin XB
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanTIMP37078TIMP metallopeptidase inhibitor 3
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanSYP6855synaptophysin
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanSTK116794serine/threonine kinase 11
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanSRY6736sex determining region Y
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanSOX106663SRY (sex determining region Y)-box 10
img NCI, Score=801, Pubmed Id: 16036108, UMLKSK CUI: C0027830
HumanSDHD6392succinate dehydrogenase complex, subunit D, integral membrane protein
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanRASA15921RAS p21 protein activator (GTPase activating protein) 1
INFERRED, Score=800, UMLKSK CUI: C0027830
HumanQDPR5860quinoid dihydropteridine reductase
INFERRED, Score=800, UMLKSK CUI: C0027830
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0027830Neurofibroma0self