Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
gptkb:RET_gene
|
| gptkbp:associatedWith |
gptkb:pheochromocytoma
gptkb:familial_medullary_thyroid_carcinoma gptkb:medullary_thyroid_carcinoma gptkb:multiple_endocrine_neoplasia_type_2 parathyroid adenoma |
| gptkbp:canBe |
gptkb:point_mutation
fusion deletion germline mutation insertion missense mutation somatic mutation |
| gptkbp:canBeGermline |
yes
|
| gptkbp:canBeSomatic |
yes
|
| gptkbp:cause |
oncogenic transformation
constitutive activation of RET protein |
| gptkbp:detects |
genetic testing
|
| gptkbp:discoveredIn |
1990s
|
| gptkbp:encodes |
gptkb:receptor_tyrosine_kinase
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_10q11.2
|
| gptkbp:target |
gptkb:pralsetinib
gptkb:selpercatinib RET inhibitors |
| gptkbp:bfsParent |
gptkb:thyroid_C-cell_tumors
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
RET mutation
|