Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.030 GeneticVariation 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
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.030 GeneticVariation BEFREE Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes. 20631028

2010
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.030 GeneticVariation BEFREE We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy. 12913070

2003