PLAU, plasminogen activator, urokinase, 5328

N. diseases: 439; N. variants: 8
Disease: Erythrokeratoderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma 		0.010 GeneticVariation disease BEFREE Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1). 20854438 2011