rs181030365
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.010
GeneticVariation
BEFREE
Three types of mutations (Ala601Thr, Val355Phe, and Asp676Asn ) have been described in dysplasminogenemia .
12692411
2003
rs121918031
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
A
0.700
CausalMutation
CLINVAR
rs121918032
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
T
0.700
CausalMutation
CLINVAR
rs121918034
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
T
0.700
CausalMutation
CLINVAR
rs606231210
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
A
0.700
CausalMutation
CLINVAR
rs770198253
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.700
GeneticVariation
UNIPROT
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
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
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
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
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
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 wit h dysplasminogenemia .
12692411
2003
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
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
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.750
GeneticVariation
UNIPROT
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
10233898
1999
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
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
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.750
GeneticVariation
UNIPROT
Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.
9242524
1997
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
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
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.750
GeneticVariation
UNIPROT
Congenital plasminogen deficiency caused by a Ser572 to Pro mutation.
8392398
1993
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.750
GeneticVariation
UNIPROT
Plasminogen with type-I mutation is polymorphic in the Japanese population.
1427790
1992
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.750
GeneticVariation
UNIPROT
Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis.
1986355
1991
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
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
rs121918027
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
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
rs73015965
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
G
0.800
GeneticVariation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
rs121918029
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.800
GeneticVariation
UNIPROT
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
10233898
1999
rs121918030
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.800
GeneticVariation
UNIPROT
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
10233898
1999
rs121918033
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.800
GeneticVariation
UNIPROT
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
10233898
1999
rs121918029
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.800
GeneticVariation
UNIPROT
Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R.
9858247
1998
rs121918030
×
Entrez Id:
5340
Gene Symbol:
PLG
PLG
Plasminogen Deficiency, Type I
0.800
GeneticVariation
UNIPROT
Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R.
9858247
1998