Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
RPS19 reduction causes an increase in proteasome-mediated degradation of PIM1 and an inhibition of CDKN1B degradation  | constitutional
|  
|  
|  
| loss of function
|
leads to inflammation, TP53-dependent increase in TNF, activation of MAPK14, and decreased GATA1 expression, suggesting a novel mechanism for the erythroid defects observed in DBA  | constitutional
|  
|  
| --low
|  
|
causes a reduction of rRNA synthesis  | |