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Details
Link-It Detail - Human Phenotype - Abnormality of the intrinsic pathway
Debug Stats
  • ### Total Build Time: 25 ms 22.146 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 283 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=2 ms Completed: 2 ms rowSize= 459 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.708 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.113 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 15.220 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the intrinsic pathway HP:0010989
Definition (1)
An abnormality of the `intrinsic pathway` (GO:0007597) (also known as the contact activation pathway) of the coagulation cascade.
Parents (1)
img Abnormality of the coagulation cascade HP:0003256
Children (8)
img Reduced factor X activity HP:0008321
img Factor X activation deficiency HP:0008354
img Reduced factor VIII activity HP:0003125
img Reduced von Willebrand factor activity HP:0008330
img Reduced factor XI activity HP:0001929
img Reduced kininogen activity HP:0005527
img Reduced factor IX activity HP:0011858
img Reduced factor XII activity HP:0004841
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the coagulation cascade HP:0003256
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the coagulation cascade HP:0003256
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanANO6196527anoctamin 6
img HP RolledUp, OMIM ID: 262890
HumanMCFD290411multiple coagulation factor deficiency 2
img HP RolledUp, OMIM ID: 613625
img HP RolledUp, OMIM ID: 227300
HumanVKORC179001vitamin K epoxide reductase complex, subunit 1
img HP RolledUp, OMIM ID: 607473
HumanALG629929ALG6, alpha-1,3-glucosyltransferase
img HP RolledUp, OMIM ID: 603147
HumanNBEAL223218neurobeachin-like 2
img HP RolledUp, OMIM ID: 139090
HumanVWF7450von Willebrand factor
img HP RolledUp, OMIM ID: 193400
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img HP RolledUp, OMIM ID: 163950
HumanPMM25373phosphomannomutase 2
img HP RolledUp, OMIM ID: 212065
HumanMPI4351mannose phosphate isomerase
img HP RolledUp, OMIM ID: 602579
HumanMGAT24247mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
img HP RolledUp, OMIM ID: 212066
HumanLMAN13998lectin, mannose-binding, 1
img HP RolledUp, OMIM ID: 227300
HumanKNG13827kininogen 1
img HP RolledUp, OMIM ID: 228960
HumanGGCX2677gamma-glutamyl carboxylase
img HP RolledUp, OMIM ID: 610842
HumanF122161coagulation factor XII (Hageman factor)
img HP RolledUp, OMIM ID: 234000
HumanF112160coagulation factor XI
img HP RolledUp, OMIM ID: 612416
HumanF102159coagulation factor X
img HP RolledUp, OMIM ID: 227600
HumanF92158coagulation factor IX
img HP RolledUp, OMIM ID: 306900
img HP IEA, OMIM ID: 300807
HumanF82157coagulation factor VIII, procoagulant component
img HP RolledUp, OMIM ID: 306700
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010989Abnormality of the intrinsic pathway0self