Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:associated_with |
gptkb:muscular_dystrophy
|
| gptkbp:clinical_trial |
biomarker for spinal muscular atrophy
|
| gptkbp:code |
survival motor neuron protein
|
| gptkbp:discovered_by |
Dr. Adrian R. H. M. W. van der Woude
|
| gptkbp:genetic_studies |
gptkb:spinal_muscular_atrophy_type_1
|
| gptkbp:has_expression_pattern |
ubiquitous expression
|
| gptkbp:has_function |
involved in RNA processing
|
| gptkbp:has_role |
neuroprotective function
|
| gptkbp:has_variants |
gptkb:SMN1
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMN2
|
| gptkbp:is_expressed_in |
motor neurons
|
| gptkbp:is_part_of |
gptkb:SMN_complex
|
| gptkbp:is_regulated_by |
transcription factors
|
| gptkbp:is_studied_in |
gene therapy research
|
| gptkbp:is_targeted_at |
antisense oligonucleotides
|
| gptkbp:located_in |
human chromosome 5
|
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|