Gene: HNRNPR ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437 2014
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons. 25338097 2014
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR RNA-binding proteins and translational regulation in axons and growth cones. 23734093 2013
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair. 22498899 2012
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles. 20584894 2010
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons. 20167579 2010
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Functional diversity of the hnRNPs: past, present and perspectives. 20795951 2010
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. 20382278 2010
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR The expression pattern of heterogeneous nuclear ribonucleoprotein R in rat retina. 19015982 2009
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. 17603806 2007
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. 16757948 2006
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. 15822126 2005
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Cloning and expression of a novel isoform of heterogeneous nuclear ribonucleoprotein-R. 15858414 2005
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. 14623865 2003
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? 11773003 2002
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		0.100 GeneticVariation phenotype CLINVAR Molecular definition of heterogeneous nuclear ribonucleoprotein R (hnRNP R) using autoimmune antibody: immunological relationship with hnRNP P. 9421497 1998