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Details
Link-It Detail - Disease - Neurofibromatosis 1
Debug Stats
  • ### Total Build Time: 219 ms 77.091 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1.049 KB
  • 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=2 ms Completed: 2 ms rowSize= 187 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=17 ms Completed: 17 ms rowSize= 1,005 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 15.664 KB
  • CONCEPT_RELATIONSHIPS gt=149 ms Completed: 149 ms rowSize= 15.060 KB
  • CONCEPT_GENES gt=40 ms Completed: 40 ms rowSize= 42.638 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neurofibromatosis 1 C0027831
Definition (1)
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
Semantic Types (1)
Neoplastic Process (T191)
Parents (2)
img Peripheral Nervous System Diseases C0031117
img Neurofibromatoses C0162678
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Peripheral Nervous System Diseases C0031117
img Nervous System Diseases C0027765img Neurocutaneous Syndromes C02653164img Neurofibromatoses C0162678
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007687img Neurofibromatoses C0162678
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372747img Neurofibromatoses C0162678
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Neurofibromatoses C0162678
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Neurofibromatoses C0162678
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Neurofibromatoses C0162678
img Neoplasms C0027651img Neoplastic Syndromes, Hereditary C00276724img Neurofibromatoses C0162678
img Neoplasms C0027651img Neoplasms by Histologic Type C00276527img Neurofibromatoses C0162678
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278688img Neurofibromatoses C0162678
img Neoplasms C0027651img Neoplasms by Site C00276538img Neurofibromatoses C0162678
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277667img Neurofibromatoses C0162678
Relationships (137)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 7
diso_​to_​diso : 114
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 6


Relationships:
none : 88
associated_​genetic_​condition : 1
classifies : 1
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​finding_​of_​disease : 2
isa : 4
manifestation_​of : 31
may_​be_​associated_​disease_​of_​disease : 7
permuted_​term_​of : 1
used_​for : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO478img Complication Aspects C1171258
DISO_to_DISO388img Complication Aspects C1171258
DISO_to_PHEN286img genetic aspects C0017399
DISO_to_PHEN234img genetic aspects C0017399
DISO_to_DISO68img Nerve Sheath Neoplasms C0206727
DISO_to_CHEM65img Neurofibromatosis Type 1 Protein C0083725
DISO_to_DISO55img Neurofibroma, Plexiform C0206728
DISO_to_DISO51img Cutaneous tumor C0037286
DISO_to_DISO51img Nerve Sheath Neoplasms C0206727
DISO_to_GENE50img Genes, Neurofibromatosis 1 C0085113
DISO_to_DISO46img Neurofibroma, Plexiform C0206728
DISO_to_GENE46img Genes, Neurofibromatosis 1 C0085113
DISO_to_DISO43img Neurofibroma C0027830
DISO_to_DISO42img Brain Neoplasms C0006118
DISO_to_DISO42img Cutaneous tumor C0037286
DISO_to_DISO42img Gastrointestinal Stromal Tumors C0238198
DISO_to_CHEM40img Neurofibromatosis Type 1 Protein C0083725
DISO_to_DISO37img MULTIPLE PRIMARY NEOPL C0027663
DISO_to_DISO36img Glioma of Optic Nerve C0346326
DISO_to_PHYS32img Mutation C0026882
DISO_to_DISO28img Brain Neoplasms C0006118
DISO_to_PHYS27img Mutation C0026882
DISO_to_DISO26img Glioma of Optic Nerve C0346326
DISO_to_DISO24img MULTIPLE PRIMARY NEOPL C0027663
DISO_to_DISO23img Neurofibroma C0027830
Genes (34)

Species:
human : 33
mouse : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
MouseEVI2A2123ecotropic viral integration site 2A
img NCI, Score=801, Pubmed Id: 2117565, UMLKSK CUI: C0027831
HumanSPRED1161742sprouty-related, EVH1 domain containing 1
img GENERIF, Score=1000, Pubmed Id: 17704776, UMLKSK CUI: C0027831
HumanINHBE83729inhibin, beta E
img NCI, Score=801, Pubmed Id: 11096207, UMLKSK CUI: C0027831
HumanADAP255803ArfGAP with dual PH domains 2
img GENERIF, Score=734, Pubmed Id: 14690521, UMLKSK CUI: C0027831
HumanSUZ1223512SUZ12 polycomb repressive complex 2 subunit
img NCI, Score=801, Pubmed Id: 15257518, UMLKSK CUI: C0027831
img GENERIF, Score=1000, Pubmed Id: 15257518, UMLKSK CUI: C0027831
HumanSPINK511005serine peptidase inhibitor, Kazal type 5
img NCI, Score=801, Pubmed Id: 12130905, UMLKSK CUI: C0027831
HumanRGS69628regulator of G-protein signaling 6
img NCI, Score=801, Pubmed Id: 8341688, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 14724565, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 7898926, UMLKSK CUI: C0027831
HumanIQGAP18826IQ motif containing GTPase activating protein 1
img NCI, Score=801, Pubmed Id: 11359370, UMLKSK CUI: C0027831
HumanTP638626tumor protein p63
img NCI, Score=801, Pubmed Id: 15548932, UMLKSK CUI: C0027831
HumanAKAP18165A kinase (PRKA) anchor protein 1
img NCI, Score=801, Pubmed Id: 10415327, UMLKSK CUI: C0027831
HumanSRY6736sex determining region Y
img NCI, Score=801, Pubmed Id: 11503163, UMLKSK CUI: C0027831
HumanSDHD6392succinate dehydrogenase complex, subunit D, integral membrane protein
img NCI, Score=801, Pubmed Id: 16001332, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 11857563, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 14739490, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 15788647, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 12928344, UMLKSK CUI: C0027831
HumanRASA15921RAS p21 protein activator (GTPase activating protein) 1
img NCI, Score=801, Pubmed Id: 11080503, UMLKSK CUI: C0027831
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img NCI, Score=801, Pubmed Id: 15087069, UMLKSK CUI: C0027831
HumanPMS25395PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
img NCI, Score=801, Pubmed Id: 15340263, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 15340263, UMLKSK CUI: C0027831
HumanPDGFRA5156platelet-derived growth factor receptor, alpha polypeptide
img GENERIF, Score=679, Pubmed Id: 15897742, UMLKSK CUI: C0027831
HumanOMG4974oligodendrocyte myelin glycoprotein
img NCI, Score=801, Pubmed Id: 2277079, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 8244377, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 10766898, UMLKSK CUI: C0027831
HumanNF24771neurofibromin 2 (merlin)
img NCI, Score=801, Pubmed Id: 11394441, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 10771486, UMLKSK CUI: C0027831
img GENERIF, Score=1000, Pubmed Id: 12191989, UMLKSK CUI: C0027831
HumanNF14763neurofibromin 1
Click here to display 16 evidence detail records.
HumanMYBL24605v-myb avian myeloblastosis viral oncogene homolog-like 2
img NCI, Score=801, Pubmed Id: 15182443, UMLKSK CUI: C0027831
HumanKITLG4254KIT ligand
img GENERIF, Score=1000, Pubmed Id: 15355893, UMLKSK CUI: C0027831
img GENERIF, Score=756, Pubmed Id: 16479403, UMLKSK CUI: C0027831
HumanMDK4192midkine (neurite growth-promoting factor 2)
img NCI, Score=801, Pubmed Id: 10469340, UMLKSK CUI: C0027831
img GENERIF, Score=1000, Pubmed Id: 15355893, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 10469340, UMLKSK CUI: C0027831
HumanKIT3815v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
img GENERIF, Score=717, Pubmed Id: 16235251, UMLKSK CUI: C0027831
img NCI, Score=801, Pubmed Id: 12713631, UMLKSK CUI: C0027831
HumanKIF5B3799kinesin family member 5B
img GENERIF, Score=1000, Pubmed Id: 12191989, UMLKSK CUI: C0027831
HumanKCNH13756potassium voltage-gated channel, subfamily H (eag-related), member 1
img NCI, Score=801, Pubmed Id: 11517334, UMLKSK CUI: C0027831
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0027831Neurofibromatosis 10self