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Details
Link-It Detail - Human Phenotype - Abnormality of the coagulation cascade
Debug Stats
  • ### Total Build Time: 27 ms 30.771 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 213 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 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=3 ms Completed: 3 ms rowSize= 787 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 3.721 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 2.101 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 22.797 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.032 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the coagulation cascade HP:0003256
Parents (2)
img Abnormality of coagulation HP:0001928
img Abnormality of metabolism/homeostasis HP:0001939
Children (11)
img Reduced antithrombin III activity HP:0001976
img Reduced protein C activity HP:0005543
img Abnormality of prothrombin HP:0012200
img Resistance to activated protein C HP:0012175
img Abnormality of the intrinsic pathway HP:0010989
img Reduced factor V activity HP:0003225
img Abnormality of the extrinsic pathway HP:0010988
img Abnormality of von Willebrand factor HP:0012146
img Reduced factor VIII activity HP:0003125
img Reduced protein S activity HP:0004855
img Abnormality of the common coagulation pathway HP:0010990
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of coagulation HP:0001928
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (57)

Species:
human : 57
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanUNC13D201294unc-13 homolog D (C. elegans)
img HP RolledUp, OMIM ID: 608898
HumanANO6196527anoctamin 6
img HP RolledUp, OMIM ID: 262890
HumanRFT191869RFT1 homolog (S. cerevisiae)
img HP TAS, OMIM ID: 612015
HumanMCFD290411multiple coagulation factor deficiency 2
img HP RolledUp, OMIM ID: 613625
img HP RolledUp, OMIM ID: 227300
HumanHSD3B780270hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
img HP IEA, OMIM ID: 607765
HumanSRD5A379644steroid 5 alpha-reductase 3
img HP RolledUp, OMIM ID: 612379
HumanVKORC179001vitamin K epoxide reductase complex, subunit 1
img HP RolledUp, OMIM ID: 607473
HumanC10orf256652chromosome 10 open reading frame 2
img HP ITM, OMIM ID: 251880
HumanTRMU55687tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
img HP IEA, OMIM ID: 613070
HumanTTC1954902tetratricopeptide repeat domain 19
img HP TAS, OMIM ID: 124000
HumanALG629929ALG6, alpha-1,3-glucosyltransferase
img HP RolledUp, OMIM ID: 603147
HumanHPLH127259hemophagocytic lymphohistiocytosis 1
img HP RolledUp, OMIM ID: 267700
HumanUQCRQ27089ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
img HP TAS, OMIM ID: 124000
HumanAMACR23600alpha-methylacyl-CoA racemase
img HP ITM, OMIM ID: 214950
HumanNBEAL223218neurobeachin-like 2
img HP RolledUp, OMIM ID: 139090
HumanRTF123168Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
img HP TAS, OMIM ID: 612015
HumanSLC25A1510166solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
img HP ITM, OMIM ID: 238970
HumanCYP7B19420cytochrome P450, family 7, subfamily B, polypeptide 1
img HP IEA, OMIM ID: 613812
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
img HP RolledUp, OMIM ID: 608799
HumanSUCLA28803succinate-CoA ligase, ADP-forming, beta subunit
img HP ITM, OMIM ID: 251880
HumanSTX118676syntaxin 11
img HP RolledUp, OMIM ID: 603552
HumanVWF7450von Willebrand factor
img HP RolledUp, OMIM ID: 193400
HumanUQCRB7381ubiquinol-cytochrome c reductase binding protein
img HP TAS, OMIM ID: 124000
HumanTK27084thymidine kinase 2, mitochondrial
img HP ITM, OMIM ID: 251880
HumanAKR1D16718aldo-keto reductase family 1, member D1
img HP TAS, OMIM ID: 235555
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003256Abnormality of the coagulation cascade0self