Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
| germinal mutation
|  
|  
|  
|
expansion of a non-coding GGGGCC hexanucleotide repeat in the C9ORF72 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis  | constitutional
|  
| amplification
|  
|  
|
in frontotemporal lobar degeneration, with anxiety, agitation and memory impairment and frequent motor neuron disease, with extensive thinning of frontal, temporal and parietal cortices, subcortical grey matter atrophy including thalamus and cerebellum and involvement of long intrahemispheric, commissural and corticospinal tracts | constitutional
|  
|  
| --low
|  
|
by high methylation level was significantly associated with familial ALS  | constitutional
|  
|  
|  
| loss of function
|
leads to autoimmunity  | |