LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: Adult onset autosomal dominant leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3164344
Disease: Adult onset autosomal dominant leukodystrophy
Adult onset autosomal dominant leukodystrophy 		0.550 Biomarker disease BEFREE LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature. 31695592 2019
CUI: C3164344
Disease: Adult onset autosomal dominant leukodystrophy
Adult onset autosomal dominant leukodystrophy 		0.550 Biomarker disease BEFREE An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis. 28769756 2017
CUI: C3164344
Disease: Adult onset autosomal dominant leukodystrophy
Adult onset autosomal dominant leukodystrophy 		0.550 GeneticVariation disease BEFREE In addition, elevated levels of lamin B1, attributable to genomic duplications of the LMNB1 locus, cause adult-onset autosomal dominant leukodystrophy. 25532872 2015
CUI: C3164344
Disease: Adult onset autosomal dominant leukodystrophy
Adult onset autosomal dominant leukodystrophy 		0.550 GermlineCausalMutation disease ORPHANET Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. 23649844 2013
CUI: C3164344
Disease: Adult onset autosomal dominant leukodystrophy
Adult onset autosomal dominant leukodystrophy 		0.550 Biomarker disease BEFREE The detection of lamin B1 duplication, even when autonomic dysfunctions do not precede the other symptoms of the disease, proves for the first time that lamin B1-duplicated adult-onset autosomal dominant leukodystrophy may have a phenotypic variant with delayed autonomic dysfunctions. 23681646 2013
CUI: C3164344
Disease: Adult onset autosomal dominant leukodystrophy
Adult onset autosomal dominant leukodystrophy 		0.550 Biomarker disease BEFREE Tandem duplication of LMNB1 was reported to cause adult-onset autosomal dominant leukodystrophy. 19287139 2008
CUI: C3164344
Disease: Adult onset autosomal dominant leukodystrophy
Adult onset autosomal dominant leukodystrophy 		0.550 Biomarker disease MGD