ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Disease: Renal glomerular disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.010 GeneticVariation group BEFREE MAD patients characterized by generalized lipodystrophy (type B) affecting the face as well as extremities and severe progressive glomerulopathy present heterozygous compound mutations in the ZMPSTE24 gene. 25286833 2014