ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Activated Protein C Resistance ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.030 GeneticVariation disease BEFREE We found 22 (48%) patients with the SPS, 11 (24%) with the aPCR phenotype, 5 (11%) with the factor V Leiden mutation, 7 (15%) with the prothrombin gene mutation, 29 (63%) with the MTHFR gene mutation, 11 (24%) with the factor V HR2 haplotype, 11 (24%) with antiphospholipid antibodies, 4 (9%) with PS deficiency, 6 (13%) with PC deficiency, one with the FV Hong Kong mutation, and one with AT-III deficiency. 15609280 2005
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.030 Biomarker disease BEFREE Nine out of fourteen subjects showed APC-resistance but no deficiencies in the anticoagulant proteins AT III, PC and PS. 9555645 1997
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.030 Biomarker disease BEFREE These include AT-III deficiency, protein C and S deficiencies, and APC resistance. 9158617 1997