Statements (63)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:acquired_by |
DNA sequencing
|
| gptkbp:affects |
gptkb:Vision
quality of life family dynamics neurofibromin protein |
| gptkbp:can_be_sporadic_or |
familial
|
| gptkbp:can_detect |
blood samples
|
| gptkbp:can_lead_to |
gptkb:social_stigma
educational challenges tumor formation psychosocial issues |
| gptkbp:can_result_in |
gptkb:optic_gliomas
surgical complications skin tumors |
| gptkbp:cause |
gptkb:Neurofibromatosis_type_1
|
| gptkbp:caused_by |
deletions or duplications
|
| gptkbp:complications |
hypertension
|
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:has_a_focus_on |
patient advocacy groups
genetic counseling public health awareness campaigns |
| https://www.w3.org/2000/01/rdf-schema#label |
mutation in NF1 gene
|
| gptkbp:inherits_from |
autosomal dominant inheritance
affected parent |
| gptkbp:is_a_subject_of |
clinical trials
genetic epidemiology studies |
| gptkbp:is_associated_with |
seizures
behavioral issues learning difficulties skeletal abnormalities neurocognitive deficits cafe-au-lait spots |
| gptkbp:is_characterized_by |
skin changes
neurofibromas freckling |
| gptkbp:is_involved_in |
cell signaling pathways
tumor suppressor functions tumorigenesis. |
| gptkbp:is_linked_to |
chronic pain
anxiety disorders cardiovascular issues learning disabilities cognitive impairment pain syndromes |
| gptkbp:is_linked_to_increased_risk_of |
malignant peripheral nerve sheath tumors
|
| gptkbp:is_located_in |
chromosome 17
|
| gptkbp:is_monitored_by |
tumor development
|
| gptkbp:is_part_of |
neurofibromatosis spectrum disorders
neurofibromatosis research initiatives |
| gptkbp:is_recognized_by |
clinical criteria
|
| gptkbp:is_regulated_by |
cell growth
|
| gptkbp:is_studied_for |
gene therapy approaches
|
| gptkbp:is_studied_in |
pediatric oncology
clinical genetics |
| gptkbp:occurs_in |
somatic cells
|
| gptkbp:requires |
medical management
|
| gptkbp:research |
therapeutic interventions
|
| gptkbp:targets |
pharmacological treatments
|
| gptkbp:treatment |
surgical intervention
|
| gptkbp:type_of |
germline mutation
|
| gptkbp:bfsParent |
gptkb:neurofibromatosis_type_1
|
| gptkbp:bfsLayer |
6
|