EC Number   |
Disease  |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   3.4.24.84 | Acanthosis Nigricans |
20814950 |
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 3.4.24.84 | Acro-Osteolysis |
16278265 |
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. |
causal interaction
unassigned |
4
0 |
| 3.4.24.84 | Acro-Osteolysis |
20631028 |
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. |
causal interaction
unassigned |
3
0 |
| 3.4.24.84 | Acro-Osteolysis |
20814950 |
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 3.4.24.84 | Acro-Osteolysis |
26602028 |
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A. |
causal interaction
unassigned |
3
0 |
| 3.4.24.84 | Alopecia |
18587406 |
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. |
therapeutic application
unassigned |
1
0 |
| 3.4.24.84 | Atherosclerosis |
26724531 |
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation. |
causal interaction
unassigned |
4
0 |
| 3.4.24.84 | Carcinogenesis |
27729169 |
Mutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers. |
causal interaction
diagnostic usage
ongoing research
unassigned |
2
3
4
0 |
| 3.4.24.84 | Carcinoma |
10373325 |
Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins. |
ongoing research
unassigned |
1
0 |
| 3.4.24.84 | Cardiomyopathies |
27120622 |
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
1
1
0 |
