DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037670
rs886037670
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. 25356068 2014
dbSNP: rs886037672
rs886037672
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956 2014
dbSNP: rs886037672
rs886037672
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956 2014
dbSNP: rs886037683
rs886037683
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. 25118636 2014
dbSNP: rs886037706
rs886037706
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 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
dbSNP: rs886037712
rs886037712
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956 2014
dbSNP: rs1131691194
rs1131691194
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. 23868280 2013
dbSNP: rs886037672
rs886037672
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR Novel DICER1 mutation as cause of multinodular goiter in children. 23728841 2013
dbSNP: rs886037672
rs886037672
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Novel DICER1 mutation as cause of multinodular goiter in children. 23728841 2013
dbSNP: rs886037712
rs886037712
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. 22180160 2012
dbSNP: rs1060503640
rs1060503640
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		C 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs1131691192
rs1131691192
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs1131691225
rs1131691225
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. 21501861 2011
dbSNP: rs1555370248
rs1555370248
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		T 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs1566790572
rs1566790572
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		T 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs1566803555
rs1566803555
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		G 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs387906934
rs387906934
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0302859
Disease:
Euthyroid Goiter 		0.700 GeneticVariation UNIPROT DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. 21205968 2011
dbSNP: rs754081635
rs754081635
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs754081635
rs754081635
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR Extending the phenotypes associated with DICER1 mutations. 21882293 2011
dbSNP: rs765059994
rs765059994
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		A 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs886037670
rs886037670
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs886037683
rs886037683
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384 2011
dbSNP: rs886037709
rs886037709
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		CG 0.700 CausalMutation CLINVAR Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. 21501861 2011
dbSNP: rs886037712
rs886037712
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR Germline DICER1 mutations and familial cystic nephroma. 21036787 2010
dbSNP: rs1060503640
rs1060503640
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		C 0.700 GeneticVariation CLINVAR DICER1 mutations in familial pleuropulmonary blastoma. 19556464 2009