SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Disease: Antithrombin III Deficiency ×
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: 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: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 Biomarker disease BEFREE SERPINC1 was sequenced in 214 cases with a positive test for antithrombin deficiency, including 67 with no deficiency in the sample delivered to our laboratory. 27098529 2016
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE SERPINC1 gene mutations in antithrombin deficiency. 28317092 2017
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 Biomarker disease BEFREE Antithrombin III microheterogeneity in antithrombin III deficiency and in the antithrombin III abnormality, "antithrombin III Toyama". 3116713 1987
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease CLINVAR A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. 21325262 2011
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency. 21885952 2011
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection. 8486379 1993
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE A series of 10 Polish patients with thromboembolic events and antithrombin deficiency: two new c.1154-1 G>C and c.1219-534 A>G SERPINC1 gene splicing mutations. 31157679 2019
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease BEFREE A small deletion in SERPINC1 causes type I antithrombin deficiency by promoting endoplasmic reticulum stress. 27708219 2016
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. 12353073 2002
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: 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 Antithrombin Chicago, amino acid substitution of arginine 393 to histidine. 2781509 1989
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: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin. 7832187 1995
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. 8443391 1993
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 GeneticVariation disease UNIPROT Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site. 3191114 1988
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency. 9157604 1997
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. 9031473 1997
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 GeneticVariation disease UNIPROT Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. 12595305 2003