Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. 28323992

2017
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter. 27459524

2016
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Functional characterization of multiple DICER1 mutations in an adolescent. 26545620

2016
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter. 25451712

2015
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 26925222

2015
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. 24675358

2014
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956

2014
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. 24909177

2014
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Germ-line and somatic DICER1 mutations in pineoblastoma. 25022261

2014
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. 25356068

2014
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Novel DICER1 mutation as cause of multinodular goiter in children. 23728841

2013
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Germline DICER1 mutations were found in all four patients with familial PPB and 2 of 52 (3.8%) sporadic ERMS had somatic mutations. 22180160

2012
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. 21501861

2011
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Extending the phenotypes associated with DICER1 mutations. 21882293

2011
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384

2011
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384

2011
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Germline DICER1 mutations and familial cystic nephroma. 21036787

2010
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 GeneticVariation CLINVAR Expression of DICER1 protein was undetectable in the epithelial component of PPB tumors but was retained in the malignant mesenchyme (sarcoma). 19556464

2009
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		0.800 CausalMutation CLINVAR Expression of DICER1 protein was undetectable in the epithelial component of PPB tumors but was retained in the malignant mesenchyme (sarcoma). 19556464

2009