SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 Biomarker disease HPO
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.500 Biomarker disease HPO
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis 		0.110 Biomarker disease HPO
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.110 Biomarker disease HPO
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		0.110 Biomarker disease HPO
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		0.100 Biomarker disease HPO
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		0.100 Biomarker disease HPO
CUI: C0151942
Disease: Arterial thrombosis
Arterial thrombosis 		0.100 Biomarker phenotype HPO
CUI: C0264995
Disease: Occlusion of artery (disorder)
Occlusion of artery (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0267412
Disease: Mesenteric Venous Thrombosis
Mesenteric Venous Thrombosis 		0.100 Biomarker phenotype HPO
CUI: C1510431
Disease: Superficial Thrombophlebitis
Superficial Thrombophlebitis 		0.100 Biomarker disease HPO
CUI: C3279439
Disease: Recurrent spontaneous abortion
Recurrent spontaneous abortion 		0.100 Biomarker phenotype HPO
CUI: C3550150
Disease: Recurrent thrombophlebitis
Recurrent thrombophlebitis 		0.100 Biomarker phenotype HPO
CUI: C4025286
Disease: Recurrent thromboembolism
Recurrent thromboembolism 		0.100 Biomarker phenotype HPO
CUI: C4280702
Disease: Reduced antithrombin antigen
Reduced antithrombin antigen 		0.100 Biomarker phenotype HPO
CUI: C4552670
Disease: Portal Vein Thrombosis, CTCAE
Portal Vein Thrombosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4553919
Disease: Superficial Thrombophlebitis, CTCAE
Superficial Thrombophlebitis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease CLINVAR "CpG dinucleotides are ""hotspots"" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction." 2615648 1989
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.020 GeneticVariation disease BEFREE Cerebral infarction in a heterozygote with variant antithrombin III. 1448834 1992
CUI: C0338573
Disease: Cerebral venous sinus thrombosis
Cerebral venous sinus thrombosis 		0.020 Biomarker disease BEFREE Cerebral venous sinus thrombosis is an uncommon condition with many clinical manifestations, and hereditary prothrombotic conditions such as factor Leiden V, deficiency of protein S, protein C and antithrombin III, as well as prothrombin gene mutation, may account for 10-15% of cases. 17245631 2007
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.500 GeneticVariation disease BEFREE Deep vein thrombosis (DVT) has a strong inherited predisposition that is partly explained by the strong genetic risk factors such as mutations in factor V, prothrombin, antithrombin III, protein C and S genes. 25091233 2014
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 Biomarker disease BEFREE APC resistance (13.4 %) was detected to be most common in Indian RPL patients followed by PS (10.6 %), PC (9.8 %) and AT deficiency (4.31 %.). 25771983 2015
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 AlteredExpression disease BEFREE AMI complicated with cerebral infarction has negative correlations with the levels of AT-III and adiponectin, but positively associated with the levels of NT-proBNP, HOMA-IR and HMGB1, possessing certain clinical significance in AMI treatment. 31173318 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 AlteredExpression disease BEFREE AMI complicated with cerebral infarction has negative correlations with the levels of AT-III and adiponectin, but positively associated with the levels of NT-proBNP, HOMA-IR and HMGB1, possessing certain clinical significance in AMI treatment. 31173318 2019