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Details
Link-It Detail - Disease - Amyloid Neuropathies, Familial
Debug Stats
  • ### Total Build Time: 47 ms 38.823 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 467 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 1.424 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=18 ms Completed: 18 ms rowSize= 9.342 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 13.009 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 12.860 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Amyloid Neuropathies, Familial C0206245
Definition (1)
Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Amyloidosis, Familial C0740340
img Amyloid Neuropathies C0206247
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amyloidosis, Familial C0740340
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amyloidosis, Familial C0740340
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Amyloidosis, Familial C0740340
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278685img Amyloid Neuropathies C0206247
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Amyloid Neuropathies C0206247
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (28)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 4
diso_​to_​diso : 12
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 18
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 7
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN110img genetic aspects C0017399
DISO_to_CHEM93img Prealbumin C0032923
DISO_to_PHEN92img genetic aspects C0017399
DISO_to_CHEM65img Prealbumin C0032923
DISO_to_DISO29img Complication Aspects C1171258
DISO_to_DISO28img Complication Aspects C1171258
DISO_to_CHEM27img Amyloid C0002716
DISO_to_CHEM16img Amyloid C0002716
DISO_to_ANAT12img Vitreous Body C0042905
DISO_to_ANAT10img In Blood C0005768
DISO_to_DISO10img Disorder of eye C0015397
DISO_to_PHYS10img Mutation C0026882
DISO_to_DISO9img Amyloidosis C0002726
DISO_to_PHYS8img Mutation C0026882
DISO_to_PHYS8img Mutation, Point C0162735
DISO_to_PHYS7img Mutation, Point C0162735
DISO_to_ANAT6img In Blood C0005768
DISO_to_PHYS6img Missense Mutation C0599155
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Peripheral Nerves C0031119
DISO_to_DISOisaimg AMYLOIDOSIS, NEUROPATHIC C0268384
DISO_to_DISOpermuted_term_ofimg Amyloid Neuropathies, Familial C0206245
DISO_to_DISOisaimg Amyloid Polyneuropathy, British Type (disorder) C0342608
DISO_to_DISOisaimg Amyloid Polyneuropathy, Swiss Type C0268386
DISO_to_DISOisaimg Familial Amyloid Polyneuropathy, Jewish Type C0268385
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanTTR7276transthyretin
img GENERIF, Score=1000, Pubmed Id: 18925456, UMLKSK CUI: C0206245
img GENERIF, Score=717, Pubmed Id: 12039669, UMLKSK CUI: C0206245
img GENERIF, Score=1000, Pubmed Id: 17577688, UMLKSK CUI: C0206245
img GAD, Score=1000, Pubmed Id: 15649951, UMLKSK CUI: C0206245
img GENERIF, Score=1000, Pubmed Id: 16076613, UMLKSK CUI: C0206245
img GENERIF, Score=679, Pubmed Id: 12433265, UMLKSK CUI: C0206245
img GAD, Score=787, Pubmed Id: 10611951, UMLKSK CUI: C0206245
img GENERIF, Score=1000, Pubmed Id: 14673473, UMLKSK CUI: C0206245
img GENERIF, Score=1000, Pubmed Id: 16751191, UMLKSK CUI: C0206245
img GENERIF, Score=694, Pubmed Id: 18460047, UMLKSK CUI: C0206245
img GENERIF, Score=756, Pubmed Id: 12095258, UMLKSK CUI: C0206245
img GENERIF, Score=923, Pubmed Id: 18688962, UMLKSK CUI: C0206245
img GENERIF, Score=923, Pubmed Id: 17698792, UMLKSK CUI: C0206245
HumanAPP351amyloid beta (A4) precursor protein
img GENERIF, Score=756, Pubmed Id: 17701472, UMLKSK CUI: C0206245
HumanAPCS325amyloid P component, serum
img GAD, Score=1000, Pubmed Id: 15649951, UMLKSK CUI: C0206245
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0206245Amyloid Neuropathies, Familial0self