Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
5
|
| gptkbp:bfsParent |
gptkb:Cockayne_syndrome
|
| gptkbp:caused_by |
ATM gene mutation
|
| gptkbp:characteristics |
immunological abnormalities
ocular telangiectasia progressive ataxia sensitivity to ionizing radiation |
| gptkbp:clinical_trial |
cognitive decline
difficulty walking ongoing research slurred speech skin changes frequent infections |
| gptkbp:current_use |
gptkb:healthcare_organization
neurodegeneration |
| gptkbp:descendant |
autosomal recessive
both parents must carry mutation |
| gptkbp:first_described_by |
gptkb:1957
|
| gptkbp:genetic_diversity |
recommended
frameshift mutation missense mutation nonsense mutation ATM gene analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
Ataxia-telangiectasia
|
| gptkbp:is_a_basis_for |
defective DNA repair
|
| gptkbp:is_involved_in |
A-T Society
Ataxia-Telangiectasia Children's Project |
| gptkbp:is_popular_in |
rare disorder
|
| gptkbp:lifespan |
variable
|
| gptkbp:origin |
ATM
|
| gptkbp:premiered_on |
childhood
|
| gptkbp:research |
ATM gene involved in DNA damage response
ATM gene involved in cell cycle regulation ATM gene mutations affect immune system function ATM gene mutations lead to increased cancer risk ATM gene mutations linked to neurodegeneration |
| gptkbp:research_areas |
oncology
immunology neurogenetics |
| gptkbp:research_focus |
gptkb:physicist
targeted therapy |
| gptkbp:risk_factor |
family history
ethnic background |
| gptkbp:social_responsibility |
genetic testing
clinical evaluation clinical symptoms and family history |
| gptkbp:symptoms |
ataxia
telangiectasia cancer predisposition immunodeficiency |
| gptkbp:treatment |
physical therapy
symptomatic management immunoglobulin replacement therapy |