Statements (69)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
survival motor neuron protein
|
| gptkbp:can_detect |
genetic testing
|
| gptkbp:can_lead_to |
respiratory failure
|
| gptkbp:can_result_in |
gptkb:type_III_spinal_muscular_atrophy
gptkb:type_II_spinal_muscular_atrophy gptkb:type_I_spinal_muscular_atrophy |
| gptkbp:cause |
gptkb:muscular_dystrophy
|
| gptkbp:caused_by |
point mutations
|
| gptkbp:has_a_focus_on |
clinical trials
research funding international collaborations patient advocacy groups biomedical research |
| https://www.w3.org/2000/01/rdf-schema#label |
SMN1 gene mutation
|
| gptkbp:inherits_from |
autosomal recessive inheritance
|
| gptkbp:is_a_subject_of |
public health initiatives
scientific publications genetic counseling ethical discussions |
| gptkbp:is_associated_with |
muscle weakness
quality of life issues emotional support needs infant mortality long-term care needs cognitive function preservation loss of muscle function muscle development issues |
| gptkbp:is_characterized_by |
progressive nature
variable expressivity early onset loss of motor neurons |
| gptkbp:is_essential_for |
motor neuron health
|
| gptkbp:is_found_in |
various populations
|
| gptkbp:is_influenced_by |
environmental factors
|
| gptkbp:is_involved_in |
neuromuscular disorders
pathophysiology of SMA |
| gptkbp:is_linked_to |
genetic predisposition
muscle atrophy clinical outcomes family planning decisions progressive muscle atrophy genetic screening programs genetic testing recommendations research breakthroughs. |
| gptkbp:is_located_in |
chromosome 5
|
| gptkbp:is_managed_by |
supportive care
|
| gptkbp:is_often_seen_in |
spinal muscular atrophy patients
|
| gptkbp:is_recognized_by |
DNA sequencing
|
| gptkbp:is_related_to |
gptkb:neurodegenerative_diseases
gptkb:SMN2_gene genetic diversity patient education efforts |
| gptkbp:is_studied_for |
therapeutic interventions
therapeutic efficacy biomarker development |
| gptkbp:is_studied_in |
animal models
clinical research |
| gptkbp:issues |
healthcare providers
new parents |
| gptkbp:targets |
gptkb:gene_therapy
small molecule drugs |
| gptkbp:treatment |
gptkb:nusinersen
|
| gptkbp:was_a_factor_in |
treatment planning
patient prognosis community awareness campaigns |
| gptkbp:was_a_result_of |
deletion or mutation in SMN1 gene
|
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|