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Details
Link-It Detail - Disease - Amyloidosis, Familial
Debug Stats
  • ### Total Build Time: 32 ms 29.253 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 391 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 215 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=8 ms Completed: 8 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 990 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1,023 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 4.126 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 8.919 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 12.284 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Amyloidosis, Familial C0740340
Amyloidoses, Familial
Definition (1)
Diseases in which there is a familial pattern of AMYLOIDOSIS.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Metabolism, Inborn Errors C0025521
img Amyloidosis C0002726
Children (2)
img Cerebral Amyloid Angiopathy, Familial C0268393
img Amyloid Neuropathies, Familial C0206245
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
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amyloidosis C0002726
Relationships (20)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 12
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 13
is_​finding_​of_​disease : 3
mapped_​to : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN82img genetic aspects C0017399
DISO_to_PHEN57img genetic aspects C0017399
DISO_to_CHEM31img Prealbumin C0032923
DISO_to_DISO30img Complication Aspects C1171258
DISO_to_PHYS19img Mutation C0026882
DISO_to_CHEM18img Prealbumin C0032923
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_PHYS12img Mutation C0026882
DISO_to_CHEM11img Amyloid C0002716
DISO_to_DISO11img Cardiomyopathies C0878544
DISO_to_DISO11img Corneal Dystrophies, Hereditary C0010035
DISO_to_DISO10img Familial Mediterranean Fever C0031069
DISO_to_CHEM9img Gelsolin C0061187
DISO_to_DISOmapped_toimg AMYLOIDOSIS VIII C0268389
DISO_to_DISOis_finding_of_diseaseimg Amorphus, Eosinophilic, and Acellular Deposit C1705760
DISO_to_DISOpermuted_term_ofimg Amyloidoses, Familial C0740340
DISO_to_DISOis_finding_of_diseaseimg Apple Green Dichromism Present in Polarized Congo-Red Stained Sections C1706838
DISO_to_DISOmapped_toimg Cerebral hemorrhage with amyloidosis, hereditary, Dutch type C2931672
DISO_to_DISOmapped_toimg Corneal dystrophy, Lattice type 3 C0339273
DISO_to_DISOis_finding_of_diseaseimg Hereditary Lesion C1708351
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanHAMP57817hepcidin antimicrobial peptide
img GENERIF, Score=694, Pubmed Id: 18544472, UMLKSK CUI: C0740340
HumanPARK711315parkinson protein 7
img GENERIF, Score=698, Pubmed Id: 17487420, UMLKSK CUI: C0740340
HumanTTR7276transthyretin
img GENERIF, Score=698, Pubmed Id: 16194875, UMLKSK CUI: C0740340
img GENERIF, Score=913, Pubmed Id: 17968690, UMLKSK CUI: C0740340
img GENERIF, Score=698, Pubmed Id: 12082059, UMLKSK CUI: C0740340
HumanSLC6A46532solute carrier family 6 (neurotransmitter transporter), member 4
img GENERIF, Score=658, Pubmed Id: 18760272, UMLKSK CUI: C0740340
HumanFURIN5045furin (paired basic amino acid cleaving enzyme)
img GENERIF, Score=1000, Pubmed Id: 14596804, UMLKSK CUI: C0740340
HumanGSN2934gelsolin
img GENERIF, Score=694, Pubmed Id: 11753432, UMLKSK CUI: C0740340
img GENERIF, Score=1000, Pubmed Id: 15215896, UMLKSK CUI: C0740340
HumanEPO2056erythropoietin
img GENERIF, Score=694, Pubmed Id: 18544472, UMLKSK CUI: C0740340
HumanCOMT1312catechol-O-methyltransferase
img GENERIF, Score=658, Pubmed Id: 18760272, UMLKSK CUI: C0740340
HumanAPP351amyloid beta (A4) precursor protein
INFERRED, Score=800, UMLKSK CUI: C0740340
HumanAPCS325amyloid P component, serum
INFERRED, Score=800, UMLKSK CUI: C0740340
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0740340Amyloidosis, Familial0self