| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
|
|
|
severely reduces cilia number and alters ciliar morphology  | | constitutional
|
|
|
| loss of function
| |
Nek1 deficiency leads to disordered kidney maturation, and cysts throughout the nephron | | constitutional
|
|
|
| loss of function
| |
disrupts endosomal trafficking of plasma membrane proteins and cerebral proteome homeostasis to promote mitochondrial and lysosomal dysfunction and aggregation of SNCA | |
