PLG, plasminogen, 5340

N. diseases: 586; N. variants: 34
Disease: Plasminogen Deficiency, Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
Plasminogen Deficiency, Type I 		0.800 GeneticVariation UNIPROT Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. 10233898 1999
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
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
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
Plasminogen Deficiency, Type I 		0.800 GeneticVariation UNIPROT Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. 9242524 1997
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
Plasminogen Deficiency, Type I 		0.800 GeneticVariation UNIPROT Congenital plasminogen deficiency caused by a Ser572 to Pro mutation. 8392398 1993
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
Plasminogen Deficiency, Type I 		0.800 GeneticVariation UNIPROT Plasminogen with type-I mutation is polymorphic in the Japanese population. 1427790 1992
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
Plasminogen Deficiency, Type I 		0.800 GeneticVariation UNIPROT Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis. 1986355 1991
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
Plasminogen Deficiency, Type I 		0.800 GeneticVariation UNIPROT Plasminogens Tochigi II and Nagoya: two additional molecular defects with Ala-600----Thr replacement found in plasmin light chain variants. 6238949 1984
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
Plasminogen Deficiency, Type I 		0.800 GeneticVariation UNIPROT Plasminogen Tochigi: inactive plasmin resulting from replacement of alanine-600 by threonine in the active site. 6216475 1982
dbSNP: rs121918030
rs121918030
Entrez Id: 5340
Gene Symbol: PLG
PLG
CUI: C1968804
Disease:
Plasminogen Deficiency, Type I 		A 0.800 CausalMutation CLINVAR