Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:retinoblastoma
bladder cancer Small Cell Lung Cancer osteosarcoma |
| gptkbp:canBe |
germline mutation
somatic mutation |
| gptkbp:cause |
loss of tumor suppressor function
|
| gptkbp:detects |
genetic testing
|
| gptkbp:disruptsFunction |
cell cycle regulation
|
| gptkbp:firstDescribed |
1986
|
| https://www.w3.org/2000/01/rdf-schema#label |
RB1 mutation
|
| gptkbp:impactsProtein |
gptkb:retinoblastoma_protein
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:13q14
|
| gptkbp:OMIM |
614041
|
| gptkbp:regulates |
gptkb:RB1
|
| gptkbp:riskFactor |
secondary cancers
|
| gptkbp:bfsParent |
gptkb:Combined_Small_Cell_Lung_Cancer
|
| gptkbp:bfsLayer |
6
|