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Details
Link-It Detail - Disease - CFH DEFICIENCY
Debug Stats
  • ### Total Build Time: 17 ms 11.511 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=NONE 1 ms Completed: 1 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=8 ms Completed: 8 ms rowSize= 7.016 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 2.958 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CFH DEFICIENCY C0398777
Relationships (16)

Relation Types:
diso_​to_​diso : 16


Relationships:
alias_​of : 1
manifestation_​of : 15
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOalias_ofimg CFH DEFICIENCY C0398777
DISO_to_DISOmanifestation_ofimg Caused by mutation in the complement factor H gene (CFH, 134370.0002) C1969224
DISO_to_DISOmanifestation_ofimg Continuous activation of the alternative complement pathway C1969219
DISO_to_DISOmanifestation_ofimg Decreased serum complement factor H C1969222
DISO_to_DISOmanifestation_ofimg Dense Deposit Disease C0268743
DISO_to_DISOmanifestation_ofimg Depletion of components of the alternative complement pathway C1969220
DISO_to_DISOmanifestation_ofimg Deposition of complement component C3 in glomerular basement membrane C1969218
DISO_to_DISOmanifestation_ofimg HYPOCOMPLEMENTEMIA C0853888
DISO_to_DISOmanifestation_ofimg Hematuria C0018965
DISO_to_DISOmanifestation_ofimg Increased susceptibility to certain bacterial infections, especially Neisseria meningitidis C1969221
DISO_to_DISOmanifestation_ofimg Normal levels of complement factor H, but impaired function C1969223
DISO_to_DISOmanifestation_ofimg Onset in infancy or childhood C1853128
DISO_to_DISOmanifestation_ofimg Progressive renal failure C0748318
DISO_to_DISOmanifestation_ofimg Some patients may be asymptomatic C1834543
DISO_to_DISOmanifestation_ofimg Thickening of the glomerular basement membrane on renal biopsy C1969217
DISO_to_DISOmanifestation_ofimg Variable phenotype C1837514
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCFH3075complement factor H
img GENERIF, Score=923, Pubmed Id: 16909242, UMLKSK CUI: C0398777
img GENERIF, Score=1000, Pubmed Id: 14974950, UMLKSK CUI: C0398777
img GENERIF, Score=923, Pubmed Id: 18336910, UMLKSK CUI: C0398777
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0398777CFH DEFICIENCY0self