Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0033300
Disease: Progeria
Progeria
0.020 Biomarker BEFREE Mutations in <i>LMNA</i> or <i>ZMPSTE24</i> that impede this prelamin A cleavage step cause the premature aging disease Hutchinson-Gilford progeria syndrome (HGPS), and the related progeroid disorders mandibuloacral dysplasia type B (MAD-B) and restrictive dermopathy (RD). 29794150

2018

Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
CUI: C0033300
Disease: Progeria
Progeria
0.020 Biomarker BEFREE MADA and Hutchinson-Gilford progeria syndrome are caused by the same gene and may represent a single disorder with varying degrees of severity. 25286833

2014