rs121918027, PLG

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation BEFREE A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a patient with recurrent venous thromboembolism, causes dysplasminogenemia with reduced plasmin activity. 28686706 2017
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation BEFREE We concluded that, although carriers with PLG:p.Ala620Thr show low plasminogen activity, this is not a predisposing variant for aHUS and that individuals of dysplasminogenemia are not at significantly increased risk of aHUS. 27194432 2016
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation BEFREE Dysplasminogenemia was identified in 3 (8.3%) of unrelated 36 patients with deep vein thrombosis and the Ala601Thr mutation was detected in all three patients with dysplasminogenemia. 12692411 2003
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation BEFREE Gene analysis revealed a homozygous missense mutation (Ala601-->Thr) at exon 15 of the plasminogen gene in the patient and a heterozygous mutation in his three daughters, suggesting that the patient has dysplasminogenaemia, which was reported as "plasminogen Tochigi." 12091052 2002
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation UNIPROT Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. 10233898 1999
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation UNIPROT Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R. 9858247 1998
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation UNIPROT Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. 9242524 1997
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation BEFREE Genetic diagnosis of dysplasminogenemia: detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation. 8865518 1996
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation UNIPROT Congenital plasminogen deficiency caused by a Ser572 to Pro mutation. 8392398 1993
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation UNIPROT Plasminogen with type-I mutation is polymorphic in the Japanese population. 1427790 1992
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation UNIPROT Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis. 1986355 1991
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation UNIPROT Plasminogens Tochigi II and Nagoya: two additional molecular defects with Ala-600----Thr replacement found in plasmin light chain variants. 6238949 1984
Plasminogen Deficiency, Type I
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
0.750 GeneticVariation UNIPROT Plasminogen Tochigi: inactive plasmin resulting from replacement of alanine-600 by threonine in the active site. 6216475 1982
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.010 GeneticVariation BEFREE A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a patient with recurrent venous thromboembolism, causes dysplasminogenemia with reduced plasmin activity. 28686706 2017
Atypical Hemolytic Uremic Syndrome
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
0.010 GeneticVariation BEFREE We concluded that, although carriers with PLG:p.Ala620Thr show low plasminogen activity, this is not a predisposing variant for aHUS and that individuals of dysplasminogenemia are not at significantly increased risk of aHUS. 27194432 2016
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.010 GeneticVariation BEFREE After returning to Korea he was tested for thrombophilia which revealed decreased activity of plasminogen and subsequent analysis of PLG gene showed heterozygous Ala620Thr mutation. 23772166 2013
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
0.010 GeneticVariation BEFREE Dysplasminogenemia was identified in 3 (8.3%) of unrelated 36 patients with deep vein thrombosis and the Ala601Thr mutation was detected in all three patients with dysplasminogenemia. 12692411 2003
Antiphospholipid Syndrome
CUI: C0085278
Disease: Antiphospholipid Syndrome
0.010 GeneticVariation BEFREE Combined Ala601-Thr-type dysplasminogenaemia and antiphospholipid antibody syndrome in a patient with recurrent thrombosis. 12091052 2002
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.010 GeneticVariation BEFREE Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders. 9375744 1997