Statements (61)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:anatomy |
gptkb:Brain
spinal cord |
| gptkbp:associated_with |
gptkb:Amyotrophic_lateral_sclerosis
gptkb:Frontotemporal_Dementia gptkb:Frontotemporal_dementia gptkb:guidelines gptkb:depression gptkb:neurodegenerative_diseases anxiety cognitive decline environmental factors clinical trials lifestyle factors patient advocacy public awareness campaigns research funding therapeutic interventions survival rate family history memory loss genetic counseling apathy behavioral changes social withdrawal neurodegeneration patient support groups psychosis motor neuron disease personality changes biomarker research age of onset RNA foci formation dipeptide repeat proteins executive dysfunction language difficulties |
| gptkbp:character_traits |
neuroinflammation
|
| gptkbp:clinical_trial |
high risk for familial ALS
|
| gptkbp:discovered_by |
gptkb:2011
|
| gptkbp:discovery_year |
gptkb:2011
|
| gptkbp:disorder_association |
cognitive impairment
|
| gptkbp:entrez_gene_id |
10000
|
| gptkbp:function |
gptkb:unknown
regulation of gene expression |
| gptkbp:genetic_studies |
loss of function
gain of toxic function hexanucleotide repeat expansion |
| https://www.w3.org/2000/01/rdf-schema#label |
C9orf72
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:is_tested_for |
genetic screening
|
| gptkbp:located_in |
human chromosome 9
|
| gptkbp:location |
chromosome 9
|
| gptkbp:nutritional_value |
gptkb:C9orf72_protein
|
| gptkbp:pathway |
neurodegeneration
|
| gptkbp:promoter |
gptkb:C9orf72
|
| gptkbp:ref_seq |
NM_145005
|
| gptkbp:research |
whole genome sequencing
|
| gptkbp:research_focus |
genetic testing
|
| gptkbp:targets |
gptkb:gene_therapy
|
| gptkbp:bfsParent |
gptkb:Motor_Neurone_Disease
|
| gptkbp:bfsLayer |
6
|