abnormality of the intrinsic pathway Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. (Human Phenotype Ontology, HP_0010989)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010989
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Genes

14 genes associated with the abnormality of the intrinsic pathway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALG6 ALG6, alpha-1,3-glucosyltransferase
F11 coagulation factor XI
F12 coagulation factor XII (Hageman factor)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
GGCX gamma-glutamyl carboxylase
LMAN1 lectin, mannose-binding, 1
MCFD2 multiple coagulation factor deficiency 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MPI mannose phosphate isomerase
PMM2 phosphomannomutase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
VKORC1 vitamin K epoxide reductase complex, subunit 1
VWF von Willebrand factor