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: 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: 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: 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: 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