PLG, plasminogen, 5340

N. diseases: 586; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Plasminogen replacement therapy for the treatment of children and adults with congenital plasminogen deficiency. 29321155 2018
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease 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
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease BEFREE Novel plasminogen gene mutations in Turkish patients with type I plasminogen deficiency. 26340456 2016
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease BEFREE Molecular pathogenesis of plasminogen Hakodate: the second Japanese family case of severe type I plasminogen deficiency manifested late-onset multi-organic chronic pseudomembranous mucositis. 27193180 2016
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease BEFREE Plasminogen (plg) deficiency has been classified as (i) hypoplasminogenemia or 'true' type I plg deficiency, and (ii) dysplasminogenemia, also called type II plg deficiency. 17900274 2007
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. 16849641 2006
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GermlineCausalMutation disease ORPHANET Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. 16849641 2006
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease BEFREE In this study, we measured the plasminogen activity in patients with deep vein thrombosis and analyzed the DNA sequence to detect three point mutations (Ala601Thr, Val355Phe and Asp676Asn) in patients with hypo/dysplasminogenemia. 12692411 2003
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease BEFREE Having previously identified 28 unrelated subjects with familial plasminogen deficiency from a cohort of 9611 blood donors, we have now reviewed 19 of these 28 subjects and screened the plasminogen gene in 15 subjects with hypoplasminogenaemia (plus five relatives) and four subjects with dysplasminogenaemia for mutations and polymorphisms. 12945885 2003
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease 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
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Pulmonary involvement in a child with ligneous conjunctivitis and homozygous type I plasminogen deficiency. 11477736 2001
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. 10233898 1999
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease UNIPROT Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. 10233898 1999
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease GENOMICS_ENGLAND Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. 10233898 1999
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Extrahepatic synthesis of plasminogen in the human cornea is up-regulated by interleukins-1alpha and -1beta. 10215610 1999
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 AlteredExpression disease BEFREE Plasminogen levels were severely reduced in all six patients; five patients were homozygous, and one patient was double heterozygous for type I plasminogen deficiency. 10066157 1998
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency. 9834305 1998
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease UNIPROT Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R. 9858247 1998
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Ligneous conjunctivitis in plasminogen-deficient mice. 9473227 1998
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Healing of corneal epithelial defects in plasminogen- and fibrinogen-deficient mice. 9501859 1998
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease UNIPROT Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. 9242524 1997
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. 9242524 1997
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 GeneticVariation disease BEFREE This is also true for the PLG gene of a case with dysplasminogenemia. 9020027 1997
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I
0.800 Biomarker disease CLINGEN Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders. 9375744 1997