Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
| --low
|  
|
associated with tumor progression |
tumoral
|  
|  
| --other
|  
|
aberrantly expressed by cancer-associated stromal cells (basal cell carcinoma) |
constitutional
|  
|  
| --over
|  
|
overexpression causes osteopenia |
constitutional
|  
| deletion
|  
|  
|
causes increased trabecular bone volume secondary to increased bone formation and osteoblastic activity |
constitutional
|  
| deletion
|  
|  
|
has a major impact in the early phases of bone acquisition, and are in accordance with the role of BMPs during skeletal development |
tumoral
|  
|  
| --low
|  
|
by hypermethylation in renal cell carcinoma |
constitutional
| germinal mutation
|  
|  
|  
|
in isolated Congenital anomalies of the kidney and urinary tract (CAKUT) |
constitutional
|  
|  
| --over
|  
|
in rheumatoid arthritis (RA) joints |