AK3, adenylate kinase 3, 50808

N. diseases: 32; N. variants: 5
Disease: von Willebrand Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.040 Biomarker disease BEFREE Probable causal mutations were detected in 8 of 11 patients with FVIII deficiency, 2 of 3 patients with FIX deficiency and 2 of 8 patients with VWD. 29388750 2018
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.040 AlteredExpression disease BEFREE Cases with isolated prolonged APTT were tested for factors VIII and IX using factor assays This was followed by FXI:C level assessment in cases with normal FVIII and FIX levels. vWD was screened in patients with low FVIII levels. 28388959 2017
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.040 GeneticVariation disease BEFREE von Willebrand disease (VWD) reflects a loss or dysfunction in von Willebrand factor (VWF), while haemophilia represents a loss or dysfunction of clotting factors such as factor VIII (FVIII) or FIX. 28750474 2017
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.040 Biomarker disease BEFREE Analogous to the differentiation between hemophilia A and B, respectively, reflecting deficiency in factor VIII (FVIII) and FIX, and increasing being recognized as reflecting clinically different disorders, types 2A and 2M von Willebrand disease (VWD) can also be shown to express both similarities and differences in their prevalence, genetic defects, laboratory test results, clinical features, and treatment responses. 27148841 2016