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Details
Link-It Detail - Disease - Progeria
Debug Stats
  • ### Total Build Time: 31 ms 32.151 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 213 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.849 KB
  • CONCEPT_RELATIONSHIPS gt=15 ms Completed: 15 ms rowSize= 12.941 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 13.880 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Progeria C0033300
Definition (1)
a disease that produces rapid aging, beginning in childhood
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Metabolism, Inborn Errors C0025521
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
Relationships (37)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 5
diso_​to_​diso : 24
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 17
expanded_​form_​of : 1
manifestation_​of : 10
mapped_​to : 8
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN104img genetic aspects C0017399
DISO_to_PHEN89img genetic aspects C0017399
DISO_to_CHEM42img Lamin Type A C0125258
DISO_to_PHYS34img Aging C0001811
DISO_to_CHEM32img Lamin Type A C0125258
DISO_to_CHEM30img Nuclear Proteins C0028589
DISO_to_CHEM25img Precursors, Protein C0033665
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_PHYS14img Mutation C0026882
DISO_to_DISO13img Werner Syndrome C0043119
DISO_to_PHYS13img Aging C0001811
DISO_to_ANAT11img Cell Nucleus C0007610
DISO_to_DISO11img Aging, Premature C0231341
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_PHYS11img Mutation C0026882
DISO_to_ANAT10img Fibroblasts C0016030
DISO_to_CHEM10img Farnesyltranstransferase C0210158
DISO_to_DISOmapped_toimg ACROMETAGERIA C0406584
DISO_to_DISOmanifestation_ofimg Absence of subcutaneous fat C0241267
DISO_to_DISOmanifestation_ofimg Aging, Premature C0231341
DISO_to_DISOmanifestation_ofimg Alopecia C0002170
DISO_to_DISOmapped_toimg BIRD-HEADED DWARFISM, MONTREAL TYPE C1859468
DISO_to_DISOmanifestation_ofimg Caused by mutation in the lamin A/C gene (LMNA, 150330.0022) C1848781
DISO_to_DISOmanifestation_ofimg Congenital micrognathia C0025990
DISO_to_DISOmapped_toimg Hutchinson Gilford progeria syndrome C2931103
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanXPA7507xeroderma pigmentosum, complementation group A
img GENERIF, Score=734, Pubmed Id: 17848622, UMLKSK CUI: C0033300
HumanTP537157tumor protein p53
img GENERIF, Score=1000, Pubmed Id: 12735900, UMLKSK CUI: C0033300
HumanRARB5915retinoic acid receptor, beta
img GENERIF, Score=694, Pubmed Id: 17556535, UMLKSK CUI: C0033300
HumanLMNA4000lamin A/C
img GENERIF, Score=734, Pubmed Id: 17848622, UMLKSK CUI: C0033300
img GENERIF, Score=937, Pubmed Id: 17459035, UMLKSK CUI: C0033300
img GENERIF, Score=861, Pubmed Id: 17469202, UMLKSK CUI: C0033300
img GENERIF, Score=1000, Pubmed Id: 15982412, UMLKSK CUI: C0033300
img GENERIF, Score=1000, Pubmed Id: 15342704, UMLKSK CUI: C0033300
img GENERIF, Score=1000, Pubmed Id: 12714972, UMLKSK CUI: C0033300
img GENERIF, Score=1000, Pubmed Id: 18442998, UMLKSK CUI: C0033300
img GENERIF, Score=1000, Pubmed Id: 18348272, UMLKSK CUI: C0033300
img GENERIF, Score=1000, Pubmed Id: 18982914, UMLKSK CUI: C0033300
img GENERIF, Score=771, Pubmed Id: 16738054, UMLKSK CUI: C0033300
img GENERIF, Score=827, Pubmed Id: 12702809, UMLKSK CUI: C0033300
HumanANK3288ankyrin 3, node of Ranvier (ankyrin G)
img GENERIF, Score=1000, Pubmed Id: 17033732, UMLKSK CUI: C0033300
HumanACAN176aggrecan
img GENERIF, Score=1000, Pubmed Id: 16650460, UMLKSK CUI: C0033300
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0033300Progeria0self