Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.020 GeneticVariation disease BEFREE We studied seven clinicopathologically defined malignant giant cell tumors, as well as two H3F3A-mutant bone sarcomas without giant cell tumor histology using a combination of clinicopathological, immunohistochemical, and molecular methods (Sanger sequencing + pyrosequencing or next generation sequencing). 31285528 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.020 Biomarker disease BEFREE We used the antibody for analysis of 22 H3F3A-mutated GCTB, including two patients with recurrences; for comparison we analysed a cohort of 36 H3F3A wild-type giant cell-rich lesions of the bone and soft tissue, containing one brown tumour, six aneurysmal bone cysts (ABC), six chondroblastomas, five non-ossifying-fibromas, two fibrous dysplasias, nine tenosynovial giant cell tumours, one giant cell-rich sarcoma and six osteosarcomas. 28211081 2017