Statements (86)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
gptkb:superoxide_dismutase_1_protein
quality of life lifespan patient prognosis neuromuscular junctions social support needs |
| gptkbp:are |
inherited in an autosomal dominant manner
|
| gptkbp:are_part_of |
genetic predisposition
genetic counseling research funding applications genetic databases genetic screening programs ALS research initiatives |
| gptkbp:associated_with |
Amyotrophic lateral sclerosis (ALS)
|
| gptkbp:can_be |
sporadic or familial
|
| gptkbp:can_cause |
familial ALS
|
| gptkbp:can_detect |
genetic testing
|
| gptkbp:can_lead_to |
respiratory failure
muscle weakness neurodegeneration cognitive impairment spasticity loss of reflexes motor neuron death |
| gptkbp:discovered_by |
gptkb:humans
|
| gptkbp:has_influence_on |
disease progression
|
| https://www.w3.org/2000/01/rdf-schema#label |
SOD1 gene mutations
|
| gptkbp:influence |
treatment outcomes
|
| gptkbp:inherits_from |
affected parents
|
| gptkbp:investigates |
preventive measures
therapeutic interventions therapeutic efficacy therapeutic targets gene editing studies |
| gptkbp:is_analyzed_in |
genetic diversity
next-generation sequencing mutation frequency mutation hotspots |
| gptkbp:is_associated_with |
cognitive decline
fatigue muscle atrophy muscle cramps other neurodegenerative diseases |
| gptkbp:is_considered |
risk assessment
public health policies clinical diagnosis patient management strategies a major cause of ALS |
| gptkbp:is_documented_in |
gptkb:literature
|
| gptkbp:is_examined_in |
clinical trials
biomedical research clinical settings population studies biopsy samples clinical implications clinical features |
| gptkbp:is_linked_to |
environmental factors
lifestyle factors inflammation neuroinflammation oxidative stress age of onset pain management issues |
| gptkbp:is_noted_for |
high penetrance
|
| gptkbp:is_recognized_by |
whole exome sequencing
various populations genetic counseling sessions familial ALS cases |
| gptkbp:is_related_to |
protein aggregation
|
| gptkbp:is_studied_for |
biomarker development
|
| gptkbp:is_studied_in |
animal models
genetic research genetic epidemiology biochemical assays longitudinal studies case-control studies cell culture models biological samples. |
| gptkbp:is_targeted_at |
small molecules
|
| gptkbp:resulted_in |
misfolded proteins
|
| gptkbp:scientific_classification |
pathogenic or benign
|
| gptkbp:treatment |
gptkb:gene_therapy
antisense oligonucleotides |
| gptkbp:bfsParent |
gptkb:ALS
|
| gptkbp:bfsLayer |
4
|