DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Disease: Sertoli-Leydig cell tumor of ovary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 SusceptibilityMutation disease ORPHANET Detection of germline DICER1 gene mutations in familial MNG with and without SLCT. 21205968 2011
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 GeneticVariation disease BEFREE Detection of germline DICER1 gene mutations in familial MNG with and without SLCT. 21205968 2011
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 SusceptibilityMutation disease ORPHANET Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. 21501861 2011
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 SusceptibilityMutation disease ORPHANET DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 SusceptibilityMutation disease ORPHANET Extending the phenotypes associated with DICER1 mutations. 21882293 2011
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 GeneticVariation disease BEFREE The present small series suggests that some ovarian Sertoli-Leydig cell tumor associated with germline DICER1 mutations may show distinctive histologic features in particular admixed Sertoli cell and juvenile granulosa cell tumor-like features. 25844550 2015
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 GeneticVariation disease BEFREE Familial MNG and MNG occurring with ovarian Sertoli-Leydig cell tumor are associated with germline DICER1 mutations. 27459524 2016
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 GeneticVariation disease BEFREE We report two cases of differentiated thyroid carcinoma associated with ovarian Sertoli-Leydig cell tumor and with a heterozygous DICER1 gene mutation, occurring in two unrelated young girls without pleuropulmonary blastoma. 26983701 2016
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 GeneticVariation disease BEFREE Early results from the International Ovarian and Testicular Stromal Tumor Registry show germline DICER1 mutations in 48 % of girls and women with SLCT. 26289771 2016
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		0.360 GeneticVariation disease BEFREE DICER1 germline mutations are known to predispose individuals to the development of malignant tumors, mainly pleuropulmonary blastoma and ovarian Sertoli-Leydig cell tumor. 28012864 2017