thromboembolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. (Human Phenotype Ontology, HP_0001907)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001907
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Genes

4 genes associated with the thromboembolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CBS cystathionine-beta-synthase
JAK2 Janus kinase 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria