ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.120 Biomarker disease BEFREE Moreover, upregulating the activity of Ca<sub>v</sub> 1.2 mitigated osteoporosis symptom in Zmpste24-/- mice. 31120193 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.120 Biomarker disease BEFREE Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, micrognathia, dental abnormalities, osteolytic lesions in bones, and osteoporosis, which are phenotypes shared with Hutchinson-Gilford progeria syndrome, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness. 15608054 2004
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.120 Biomarker disease HPO