rs886037672, DICER1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pleuropulmonary blastoma
CUI: C1266144
Disease: Pleuropulmonary blastoma
0.700 CausalMutation CLINVAR Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter. 27459524 2016
Pleuropulmonary blastoma
CUI: C1266144
Disease: Pleuropulmonary blastoma
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
Pleuropulmonary blastoma
CUI: C1266144
Disease: Pleuropulmonary blastoma
0.700 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956 2014
Pleuropulmonary blastoma
CUI: C1266144
Disease: Pleuropulmonary blastoma
0.700 CausalMutation CLINVAR Novel DICER1 mutation as cause of multinodular goiter in children. 23728841 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Novel DICER1 mutation as cause of multinodular goiter in children. 23728841 2013
polyps
CUI: C0032584
Disease: polyps
0.010 GeneticVariation BEFREE Next-generation sequencing was performed on the polyp tissue and revealed two pathogenic mutations in the DICER1 ribonuclease III (DICER1) gene (c.[5439G>T]; p.[Glu1813Asp] and c.[1525C>T]; p.[Arg509*]). 29883781 2019