Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A
0.020 GeneticVariation disease BEFREE C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX. 14755371 2004
CUI: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A
0.020 GeneticVariation disease BEFREE Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX. 1419804 1992