| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | disease | BEFREE | We report the cases of two Korean siblings with typical ANE and RANBP2 mutation. | 28336122 | 2017 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | In the other patient we observed a novel de novo missense mutation p.Trp681Cys in the RANBP2 gene causing recurrent ANE. | 26923722 | 2016 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | This is a description of a three and half years old girl with recurrent ANE with RANBP2 mutation (c.1754 C>T (p.T585M)). | 27591117 | 2016 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype. | 25522933 | 2015 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | We present a case of a 36-year-old female patient with a rare genetic disorder (ANE1: Acute Necrotizing Encephalopathy due to a RANBP2 mutation) who presented with an acute quadriplegia. | 23329376 | 2013 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | An autosomal dominant viral acute necrotizing encephalopathy (ANE) was recently found to have missense mutations in the gene Ran-binding 2 (RANBP2). | 20455276 | 2010 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Both the patient and her mother, who had also had postviral polyneuritis in the past, harbour a mutation in Ran-binding protein 2 (RANBP2); this occurred de novo in the mother and confers genetic susceptibility to ANE. | 19811512 | 2010 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Missense mutations in RANBP2 cause the majority of familial and recurrent ANE cases, but other single-gene causes of ANE are possible for familial, recurrent, and sporadic cases. | 21610332 | 2010 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. | 19118815 | 2009 |