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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 Biomarker disease BEFREE Transfusion studies in patients with familial antithrombin III (ATIII) deficiency: half-disappearance time of infused ATIII and influence of such infusion on platelet life-span. 7295588 1981
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 Biomarker disease BEFREE There was no familial deficiency of antithrombin III and plasminogen. 6895379 1981
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.510 Biomarker phenotype CTD_human Estrogen treatment of tall girls: risk of thrombosis? 6889048 1983
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.510 Therapeutic phenotype CTD_human Estrogen treatment of tall girls: risk of thrombosis? 6889048 1983
CUI: C0079102
Disease: Cerebral Thrombosis
Cerebral Thrombosis 		0.310 Biomarker disease CTD_human Changes of the levels of antithrombin III in patients with cerebrovascular diseases. 6636041 1983
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human Estrogen treatment of tall girls: risk of thrombosis? 6889048 1983
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Therapeutic phenotype CTD_human Estrogen treatment of tall girls: risk of thrombosis? 6889048 1983
CUI: C0752143
Disease: Intracranial Thrombosis
Intracranial Thrombosis 		0.300 Biomarker disease CTD_human Changes of the levels of antithrombin III in patients with cerebrovascular diseases. 6636041 1983
CUI: C0752144
Disease: Brain Thrombosis
Brain Thrombosis 		0.300 Biomarker disease CTD_human Changes of the levels of antithrombin III in patients with cerebrovascular diseases. 6636041 1983
CUI: C0936261
Disease: Brain Thrombus
Brain Thrombus 		0.300 Biomarker disease CTD_human Changes of the levels of antithrombin III in patients with cerebrovascular diseases. 6636041 1983
CUI: C0936263
Disease: Cerebral Thrombus
Cerebral Thrombus 		0.300 Biomarker disease CTD_human Changes of the levels of antithrombin III in patients with cerebrovascular diseases. 6636041 1983
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		0.300 Biomarker phenotype CTD_human Changes of the levels of antithrombin III in patients with cerebrovascular diseases. 6636041 1983
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 Biomarker disease BEFREE A familial abnormal antithrombin III (AT-III) is reported. 6636045 1983
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease CLINVAR Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. 6582486 1984
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. 6582486 1984
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 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
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.500 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
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.340 Biomarker phenotype CTD_human Before heparinisation, he was discovered to have a low antithrombin III level (biological activity (B) 60%, immunological level (I) 50) and a further inquiry showed the same abnormality in 4 members of the family, leading to a diagnosis of a congenital deficit: a 35 year old sister with a bilateral post-DVT changes had antithrombin III levels of 70% (B) and 45% (I); two nephews, sons of the affected sister: the one aged 5 years was asymptomatic despite antithrombin III levels of 50% (I) and 70% (B); the other had experience DVT at the age of 2 and, on oral anti-vitamin K drugs, had antithrombin III levels of 55% (I) and 67% (B) at the age of 15 years; the patient's brother died at the age of 29 of cerebral vein thrombosis after pulmonary embolism. 6435583 1984
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
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.330 Biomarker disease CTD_human [Disseminated intravascular coagulation induced by heparin. Treatment with a combination of low-molecular weight heparin and concentrated antithrombin III]. 6233579 1984
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.330 Therapeutic disease CTD_human [Disseminated intravascular coagulation induced by heparin. Treatment with a combination of low-molecular weight heparin and concentrated antithrombin III]. 6233579 1984
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.310 Biomarker disease CTD_human Heparin response and clearance in acute and chronic liver disease. 4089794 1985
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity. 3080419 1986
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity. 3080419 1986
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE Four members of an Italian family (two with histories of venous thromboembolism) had a qualitative defect of antithrombin III reflected by normal antigen concentrations and half-normal antithrombin activity with or without heparin. 3563966 1986