DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Disease: Pleuropulmonary blastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs137852979
rs137852979
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
CUI: C1266144
Disease:
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR DICER1 mutations in familial pleuropulmonary blastoma. 19556464 2009