DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Disease: Gynandroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		0.330 GeneticVariation disease BEFREE DICER1 hot-spot mutation is the key-driving event in a subset of gynandroblastomas containing components of SLCT and jGCT. 29660837 2018
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		0.330 Biomarker disease BEFREE Other DICER1-associated conditions were seen in 19% of patients with SLCT or GAB. 29037807 2017
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		0.330 GeneticVariation disease BEFREE DICER1 mutations were found at similar frequencies in gynandroblastoma (2/5; 40%) and ovarian Sertoli cell tumors (5/8; 63%; P>0.1), and all mutated tumors harbored a p.E1705K mutation. 26428316 2015
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		0.330 SusceptibilityMutation disease ORPHANET DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. 21205968 2011
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		0.330 SusceptibilityMutation disease ORPHANET DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		0.330 SusceptibilityMutation disease ORPHANET Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. 21501861 2011
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		0.330 SusceptibilityMutation disease ORPHANET Extending the phenotypes associated with DICER1 mutations. 21882293 2011