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: 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: 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: 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: C1266144
Disease:
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR Novel DICER1 mutation as cause of multinodular goiter in children. 23728841 2013