Statements (78)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:associated_with |
gptkb:muscular_dystrophy
|
| gptkbp:clinical_trial |
diagnosis of spinal muscular atrophy
|
| gptkbp:code |
survival motor neuron protein
|
| gptkbp:discovered_by |
gptkb:1995
|
| gptkbp:genetic_studies |
loss of motor neurons
spinal muscular atrophy patients |
| gptkbp:has_alternative_splice_variant |
gptkb:SMN2_gene
|
| gptkbp:has_disease_association |
gptkb:spinal_muscular_atrophy_type_1
|
| gptkbp:has_gene_symbol |
gptkb:SMN1
|
| gptkbp:has_homolog |
gptkb:SMN2_gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMN1 gene
|
| gptkbp:involved_in |
RNA processing
|
| gptkbp:is_analyzed_in |
clinical trials
genetic testing population studies |
| gptkbp:is_associated_with |
gptkb:infantile_spinal_muscular_atrophy
clinical outcomes patient management longitudinal studies neurodegenerative disorders long-term outcomes genetic variability clinical trials outcomes |
| gptkbp:is_essential_for |
motor neuron survival
neuromuscular function |
| gptkbp:is_examined_in |
functional studies
gene mutations clinical relevance functional impact |
| gptkbp:is_expressed_in |
gptkb:computer
gptkb:embryonic_development motor neurons various tissues brain tissue skeletal muscle embryonic tissues |
| gptkbp:is_involved_in |
cell signaling
cellular homeostasis cellular stress response cellular differentiation cellular signaling pathways neuronal development cellular repair mechanisms m RNA metabolism protein assembly |
| gptkbp:is_linked_to |
therapeutic strategies
disease progression genetic counseling therapeutic development motor neuron diseases progressive muscle weakness autosomal recessive disorder clinical phenotypes therapeutic interventions effectiveness |
| gptkbp:is_located_in |
5q13.2 region
|
| gptkbp:is_part_of |
gptkb:SMN_complex
gene expression regulation genetic architecture molecular pathways gene regulatory networks survival motor neuron complex |
| gptkbp:is_regulated_by |
transcription factors
|
| gptkbp:is_studied_for |
therapeutic interventions
therapeutic efficacy disease mechanisms molecular mechanisms biomarker development |
| gptkbp:is_studied_in |
animal models
genetic research |
| gptkbp:is_targeted_at |
gene editing technologies
antisense oligonucleotides |
| gptkbp:located_in |
human chromosome 5
|
| gptkbp:targets |
gptkb:gene_therapy
small molecules novel therapies |
| gptkbp:bfsParent |
gptkb:Zolgensma
|
| gptkbp:bfsLayer |
5
|