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: rs137852976
rs137852976
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
0.800 GeneticVariation UNIPROT DICER1 mutations in familial pleuropulmonary blastoma. 19556464 2009
dbSNP: rs137852976
rs137852976
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
C 0.800 CausalMutation CLINVAR
dbSNP: rs754818927
rs754818927
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
A 0.700 CausalMutation CLINVAR Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. 28323992 2017
dbSNP: rs1060503625
rs1060503625
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
A 0.700 CausalMutation CLINVAR Functional characterization of multiple DICER1 mutations in an adolescent. 26545620 2016
dbSNP: rs886037672
rs886037672
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
A 0.700 CausalMutation CLINVAR Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter. 27459524 2016
dbSNP: rs886037704
rs886037704
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung. 26886166 2016
dbSNP: rs137852979
rs137852979
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
A 0.700 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
dbSNP: rs754818927
rs754818927
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 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
dbSNP: rs754818927
rs754818927
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
A 0.700 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
dbSNP: rs886037672
rs886037672
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
A 0.700 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
dbSNP: rs886037674
rs886037674
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
C 0.700 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
dbSNP: rs886037694
rs886037694
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
TT 0.700 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
dbSNP: rs886037704
rs886037704
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
T 0.700 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
dbSNP: rs886037704
rs886037704
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 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
dbSNP: rs886037704
rs886037704
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 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
dbSNP: rs886037709
rs886037709
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
CG 0.700 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
dbSNP: rs886037712
rs886037712
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
T 0.700 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
dbSNP: rs1060503605
rs1060503605
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
A 0.700 CausalMutation CLINVAR Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. 24675358 2014
dbSNP: rs137852979
rs137852979
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
A 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: rs184830847
rs184830847
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 CausalMutation CLINVAR Germ-line and somatic DICER1 mutations in pineoblastoma. 25022261 2014
dbSNP: rs875989780
rs875989780
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma
C 0.700 CausalMutation CLINVAR Germ-line and somatic DICER1 mutations in pineoblastoma. 25022261 2014
dbSNP: rs875989784
rs875989784
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 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: rs875989784
rs875989784
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Germ-line and somatic DICER1 mutations in pineoblastoma. 25022261 2014
dbSNP: rs878855246
rs878855246
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: rs878855246
rs878855246
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