EPHA1, EPH receptor A1, 2041

N. diseases: 119; N. variants: 7
Disease: Blood Coagulation Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 Biomarker group BEFREE Novel genes recently implicated in human platelet dysfunction include the galactose metabolism enzyme UDP-galactose-4-epimerase in macrothrombocytopenia, and erythropoietin-producing hepatoma-amplified sequence receptor transmembrane tyrosine kinase EPHB2 in a severe bleeding disorder with deficiencies in platelet agonist response and granule secretion. 31348050 2019