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Details
Link-It Detail - Disease - Protein C Deficiency
Debug Stats
  • ### Total Build Time: 114 ms 28.432 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 356 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=9 ms Completed: 9 ms rowSize= 1.413 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 5.430 KB
  • CONCEPT_RELATIONSHIPS gt=57 ms Completed: 57 ms rowSize= 10.787 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 8.751 KB
  • CONCEPT_XREFS gt=17 ms Completed: 17 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Protein C Deficiency C0398625
Definition (1)
An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Blood Protein Disorders C0005830
img Blood Coagulation Disorders, Inherited C0852077
img Thrombophilia C0398623
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Blood Protein Disorders C0005830
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Blood Coagulation Disorders, Inherited C0852077
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Blood Coagulation Disorders, Inherited C0852077
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Thrombophilia C0398623
Relationships (23)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 3
diso_​to_​diso : 12
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 16
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 2
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO70img Complication Aspects C1171258
DISO_to_DISO69img Complication Aspects C1171258
DISO_to_PHEN50img genetic aspects C0017399
DISO_to_PHEN39img genetic aspects C0017399
DISO_to_CHEM37img Protein C C0033621
DISO_to_CHEM33img Protein C C0033621
DISO_to_DISO29img Protein S Deficiency C0242666
DISO_to_DISO26img DEFIC PROTEIN S C0242666
DISO_to_DISO26img Venous Thrombosis C0042487
DISO_to_ANAT22img In Blood C0005768
DISO_to_DISO20img Venous Thrombosis C0042487
DISO_to_ANAT18img In Blood C0005768
DISO_to_DISO16img Thrombosis C0040053
DISO_to_PHYS16img Mutation C0026882
DISO_to_CHEM12img Anticoagulants C0003280
DISO_to_DISO12img Thrombosis C0040053
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_associated_anatomic_site_ofimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_DISOmapped_toimg Congenital thrombotic disease, due to Protein C deficiency C2930896
DISO_to_DISOentry_version_ofimg DEFIC PROTEIN C C0398625
DISO_to_DISOisaimg Hereditary protein C deficiency C0598221
DISO_to_DISOisaimg Thrombophilia due to acquired protein C deficiency C2585386
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
img OMIM, Score=1000, UMLKSK CUI: C0398625
HumanPROS15627protein S (alpha)
img GENERIF, Score=1000, Pubmed Id: 18824642, UMLKSK CUI: C0398625
HumanPROC5624protein C (inactivator of coagulation factors Va and VIIIa)
img GENERIF, Score=1000, Pubmed Id: 15114590, UMLKSK CUI: C0398625
img OMIM, Score=1000, UMLKSK CUI: C0398625
img GENERIF, Score=884, Pubmed Id: 18376272, UMLKSK CUI: C0398625
img GENERIF, Score=1000, Pubmed Id: 16113807, UMLKSK CUI: C0398625
img GENERIF, Score=1000, Pubmed Id: 18824642, UMLKSK CUI: C0398625
img OMIM, Score=909, UMLKSK CUI: C0398625
img GENERIF, Score=717, Pubmed Id: 12482406, UMLKSK CUI: C0398625
HumanPAFAH1B25049platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
img GENERIF, Score=1000, Pubmed Id: 17849047, UMLKSK CUI: C0398625
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0398625Protein C Deficiency0self