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: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.500 Biomarker disease CTD_human Oral contraceptives, antithrombin- III activity, and postoperative deep-vein thrombosis. 55783 1976
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.340 Biomarker phenotype CTD_human Oral contraceptives, antithrombin- III activity, and postoperative deep-vein thrombosis. 55783 1976
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.300 Biomarker group CTD_human Penicillin-induced coagulation disorder. 62897 1976
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype CTD_human The effect of chlorotrianisene as postpartum lactation suppression on blood coagulation factors. 453287 1979
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.040 Biomarker disease BEFREE We conclude that abnormal antithrombin III with defective heparin binding, even though heterozygous, may cause ischemic stroke in young adults. 1448834 1992
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.020 GeneticVariation disease BEFREE Cerebral infarction in a heterozygote with variant antithrombin III. 1448834 1992
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Pleiotropic effects of antithrombin strand 1C substitution mutations. 1469094 1992