Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Small_Cell_Lung_Cancer
gptkb:bladder_cancer gptkb:retinoblastoma osteosarcoma |
| gptkbp:containsGene |
gptkb:RB1
|
| gptkbp:deletionLeadsTo |
loss of tumor suppressor function
|
| gptkbp:discoveredBy |
gptkb:Thaddeus_Dryja
|
| gptkbp:discoveredIn |
1986
|
| gptkbp:encodes |
gptkb:retinoblastoma_protein
|
| gptkbp:Entrez_Gene_ID |
5925
ENSG00000139687 |
| gptkbp:function |
cell cycle regulation
tumor suppression |
| gptkbp:geneType |
gptkb:tumor_suppressor
|
| gptkbp:HGNC_ID |
9884
|
| gptkbp:locatedOnChromosome |
gptkb:13q14
gptkb:chromosome_13 |
| gptkbp:mutationAssociatedWith |
gptkb:point_mutation
deletion insertion nonsense mutation frameshift mutation |
| gptkbp:OMIM |
614041
|
| gptkbp:orthologInMouse |
gptkb:Rb1
|
| gptkbp:bfsParent |
gptkb:chromosome_13
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
13q14 (RB1 gene)
|