EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   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 |
| 3.4.24.84 | Cardiomyopathy, Dilated |
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 |
| 3.4.24.84 | Laminopathies |
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 |
| 3.4.24.84 | Metabolic Syndrome |
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 |
| 3.4.24.84 | Obesity, Abdominal |
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 |
| 3.4.24.84 | Progeria |
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 |
| 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 | Joint Diseases |
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 | Perinatal Death |
16671095 |
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 3.4.24.84 | Progeria |
16671095 |
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
