Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
| deletion
|  
|  
|
contiguous gene syndrome encompassing L1CAM, in patients with congenital hydrocephalus and diabetes insipidus | constitutional
|  
| deletion
|  
|  
|
contiguous gene syndrome of severe combined immunodeficiency and nephrogenic diabetes insipidus in Xq28 deletion encompassing ARHGAP4 and ARD1A | constitutional
|  
|  
|  
| gain of function
|
gain of basal functionals may contribute to the increased urine concentration abilities and, therefore, provide an advantage to maintain water and electrolyte homeostasis under limited water supply conditions | constitutional
|  
|  
| --over
|  
|
significantly higher in the inner ear Meniere patients | |