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: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.030 Biomarker BEFREE Similar structural and functional mitochondrial defects are common to other neurodegenerative diseases, such as Parkinson disease and Prion disease, and to a progeroid syndrome like HGPS. 30830726

2019
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.030 GeneticVariation BEFREE Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome due to mutations in genes encoding nuclear lamina proteins, lamins A/C (LMNA) or prelamin A processing enzyme, and zinc metalloproteinase (ZMPSTE24). 18796515

2008
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.030 Biomarker BEFREE A deficiency in ZMPSTE24, a protease involved in prelamin A processing, leads to prelamin A accumulation, an absence of mature lamin A, misshapen nuclei, and a lethal perinatal progeroid syndrome: restrictive dermopathy (RD). 16129834

2005