Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.030 GeneticVariation 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
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.030 Biomarker BEFREE Nine out of fourteen subjects showed APC-resistance but no deficiencies in the anticoagulant proteins AT III, PC and PS. 9555645

1997
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.030 Biomarker BEFREE These include AT-III deficiency, protein C and S deficiencies, and APC resistance. 9158617

1997