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Details
Link-It Detail - Disease - Li-Fraumeni Syndrome
Debug Stats
  • ### Total Build Time: 174 ms 33.616 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=1 ms Completed: 1 ms rowSize= 593 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=50 ms Completed: 50 ms rowSize= 187 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=10 ms Completed: 10 ms rowSize= 1,017 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.148 KB
  • CONCEPT_RELATIONSHIPS gt=85 ms Completed: 85 ms rowSize= 14.425 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 11.769 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Li-Fraumeni Syndrome C0085390
Definition (1)
An autosomal dominant hereditary neoplastic syndrome caused by an alteration in the p53 tumor suppressor gene. It is characterized by the development of malignant neoplasms at various anatomic sites. The malignant neoplasms associated with Li-Fraumeni syndrome include adrenal cortex carcinoma, astrocytic tumors, colorectal carcinoma, gastric carcinoma, malignant breast neoplasms, medulloblastoma, osteosarcoma, and soft tissue sarcomas.
Semantic Types (1)
Neoplastic Process (T191)
Parents (2)
img Neoplastic Syndromes, Hereditary C0027672
img DNA Repair-Deficiency Disorders C1563696
Ancestral Roots
RootRoot Plus OneDepthParent
img Neoplasms C0027651img Neoplastic Syndromes, Hereditary C00276723img Neoplastic Syndromes, Hereditary C0027672
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Neoplastic Syndromes, Hereditary C0027672
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img DNA Repair-Deficiency Disorders C1563696
Relationships (29)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 17
diso_​to_​gene : 4
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 10
allele_​associated_​with_​disease : 2
associated_​genetic_​condition : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​finding_​of_​disease : 1
mapped_​to : 1
may_​be_​associated_​disease_​of_​disease : 9
may_​be_​molecular_​abnormality_​of_​disease : 2
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN88img genetic aspects C0017399
DISO_to_PHEN53img genetic aspects C0017399
DISO_to_CHEM37img Protein p53 C0080055
DISO_to_PHYS28img Germ-Line Mutation C0206530
DISO_to_GENE27img Genes, p53 C0079419
DISO_to_GENE19img Genes, p53 C0079419
DISO_to_PHYS17img Germ-Line Mutation C0206530
DISO_to_CHEM12img Protein p53 C0080055
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_PHYS12img Genetic Predisposition to Disease C0314657
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Protein p53 C0080055
DISO_to_DISOmay_be_associated_disease_of_diseaseimg ASTROCYTOMA C0004114
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Adrenocortical Carcinoma C0206686
DISO_to_DISOassociated_genetic_conditionimg Brain Neoplasms C0006118
DISO_to_DISOmay_be_molecular_abnormality_of_diseaseimg CHEK2 Gene Mutation C1511442
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Choroid Plexus Neoplasms C0085138
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Colorectal Carcinoma C0009402
DISO_to_DISOis_finding_of_diseaseimg Hereditary Lesion C1708351
DISO_to_DISOmay_be_molecular_abnormality_of_diseaseimg Inactivation of p53 Tumor-Suppressor Gene C1515171
DISO_to_DISOmapped_toimg LI-FRAUMENI SYNDROME 1 C1835398
DISO_to_DISOpermuted_term_ofimg Li-Fraumeni Syndrome C0085390
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Malignant neoplasm of breast C0006142
DISO_to_DISOassociated_genetic_conditionimg Malignant tumor of lymphoid hemopoietic and related tissue C0348393
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Medulloblastoma C0025149
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Osteosarcoma C0029463
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanCHEK211200checkpoint kinase 2
img GENERIF, Score=1000, Pubmed Id: 11719428, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 18004398, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 18178638, UMLKSK CUI: C0085390
HumanTP537157tumor protein p53
img GENERIF, Score=1000, Pubmed Id: 14656244, UMLKSK CUI: C0085390
img GENERIF, Score=694, Pubmed Id: 18937320, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 16912210, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 17318340, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 15942083, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 18511570, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 12584563, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 15381368, UMLKSK CUI: C0085390
img GENERIF, Score=1000, Pubmed Id: 17427234, UMLKSK CUI: C0085390
HumanMDM24193MDM2 oncogene, E3 ubiquitin protein ligase
img GENERIF, Score=717, Pubmed Id: 17003841, UMLKSK CUI: C0085390
HumanBAX581BCL2-associated X protein
img GENERIF, Score=679, Pubmed Id: 15298965, UMLKSK CUI: C0085390
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085390Li-Fraumeni Syndrome0self