PLG, plasminogen, 5340

N. diseases: 586; N. variants: 34
Disease: Ligneous conjunctivitis ×
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: C1274789
Disease:
Ligneous conjunctivitis 		0.010 GeneticVariation BEFREE In the first girl with ligneous conjunctivitis a homozygous G-->A point mutation was identified in plasminogen exon 7 at position 780 leading to an amino acid exchange (Arg216-->His). 9242524 1997