SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Disease: Hereditary Antithrombin Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3658294
Disease: Hereditary Antithrombin Deficiency
Hereditary Antithrombin Deficiency 		0.340 GeneticVariation disease BEFREE SERPINC1 variants causing hereditary antithrombin deficiency in a Danish population. 30721820 2019
CUI: C3658294
Disease: Hereditary Antithrombin Deficiency
Hereditary Antithrombin Deficiency 		0.340 GeneticVariation disease BEFREE Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. 24196373 2014
CUI: C3658294
Disease: Hereditary Antithrombin Deficiency
Hereditary Antithrombin Deficiency 		0.340 Biomarker disease BEFREE An antithrombin III assay based on factor Xa inhibition provides a more reliable test to identify congenital antithrombin III deficiency than an assay based on thrombin inhibition. 8470046 1993
CUI: C3658294
Disease: Hereditary Antithrombin Deficiency
Hereditary Antithrombin Deficiency 		0.340 Biomarker disease BEFREE These results showed that in a neonate with congenital antithrombin III deficiency the antithrombin III concentrates would be administered to prevent neonatal arterial and venous thrombosis. 8327986 1993
CUI: C3658294
Disease: Hereditary Antithrombin Deficiency
Hereditary Antithrombin Deficiency 		0.340 Biomarker disease CTD_human [Treatment of deep venous thrombosis in the presence of a congenital antithrombin III deficiency. Apropos of the use of purified concentrates]. 6435583 1984