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: C2363955
Disease: Venous reflux
Venous reflux 		0.010 Biomarker disease BEFREE The prevalence of thrombosis in antithrombin III-deficient and -nondeficient family members of a large kindred was estimated by history, review of diagnostic tests, and examination for venous reflux by Doppler ultrasonography, as an indicator of previous venous thrombosis. 1489375 1992
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 GeneticVariation disease BEFREE In 107 asymptomatic and untreated patients with inherited syndromes associated with thrombophilia (antithrombin III, protein C and protein S deficiencies), we compared in parallel two plasma peptides which reflect activation of the common coagulation pathway: the prothrombin fragment 1 + 2 (F1 + 2) and fibrinopeptide A (FPA). 1535736 1992
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.070 Biomarker disease BEFREE In 107 asymptomatic and untreated patients with inherited syndromes associated with thrombophilia (antithrombin III, protein C and protein S deficiencies), we compared in parallel two plasma peptides which reflect activation of the common coagulation pathway: the prothrombin fragment 1 + 2 (F1 + 2) and fibrinopeptide A (FPA). 1535736 1992
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341 1992
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. 1555650 1992
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 Biomarker group BEFREE From the lod score obtained at a recombination fraction of zero the odds for linkage of AT3 and hypertension in this family were calculated as 6:1 in favour of linkage. 1676620 1991
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 GeneticVariation disease BEFREE The present study examined the association of particular human renin gene (REN) and antithrombin III gene (AT3) polymorphisms with essential hypertension by comparing the frequency of specific alleles for each of these genes in 50 hypertensive offspring of hypertensive parents and 91 normotensive offspring of normotensive parents. 1685742 1991
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 CausalMutation disease CLINVAR Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI. 1873224 1991
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins. 1906811 1991
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Site-directed mutagenesis of alanine-382 of human antithrombin III. 2013320 1991
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.510 Biomarker phenotype CTD_human Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. 2133253 1990
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.510 Therapeutic phenotype CTD_human Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. 2133253 1990
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. 2133253 1990
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Therapeutic phenotype CTD_human Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. 2133253 1990
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine. 2229057 1990
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.030 GeneticVariation disease BEFREE Familial variant of antithrombin III (AT III Bligny, 47Arg to His) associated with protein C deficiency. 2363123 1990
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding. 2365065 1990
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.010 Biomarker disease BEFREE Patients with vitronectin levels less than 40% normal invariably had low fibrinogen and antithrombin III and a prolonged prothrombin time. 2455567 1988
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 AlteredExpression disease BEFREE In Down syndrome antithrombin III activity was reduced and factor VII antigen normal. 2533642 1989
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 AlteredExpression disease BEFREE In Down syndrome antithrombin III activity was reduced and factor VII antigen normal. 2533642 1989
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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.040 Biomarker disease BEFREE We conclude that variant AT-III, especially in a homozygote, seems to be one cause of ischemic stroke in young adults and that simultaneous measurement of both the biologic and immunologic activities of AT-III is necessary to detect it. 2658206 1989
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.400 Biomarker phenotype BEFREE The major clinical manifestations of ATIII deficiency are young age at onset, idiopathic thrombosis, family history, and recurrent venous thromboembolism. 2679068 1989
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		0.070 Biomarker disease BEFREE ATIII deficiency is found in between 4 and 6 percent of young patients with venous thrombosis, similar to but slightly lower than the prevalence of protein C and protein S deficiency in young subjects with thrombosis. 2679068 1989
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 AlteredExpression phenotype BEFREE The hemostatic system hyperactivity as measured by this assay could be specifically corrected by rising plasma ATIII levels of several persons into the normal range. 2679069 1989