LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868512
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 		0.530 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C1868512
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 		0.530 AlteredExpression disease BEFREE LMNB1 expression was increased in patients' fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. 23649844 2013
CUI: C1868512
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 		0.530 GermlineCausalMutation disease ORPHANET LMNB1 expression was increased in patients' fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. 23649844 2013
CUI: C1868512
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 		0.530 Biomarker disease GENOMICS_ENGLAND Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. 21909802 2012
CUI: C1868512
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 		0.530 Biomarker disease GENOMICS_ENGLAND These results indicate that the ADLD phenotype associated with LMNB1 duplications is mediated by increased levels of the lamin B1 protein. 21225301 2011
CUI: C1868512
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 		0.530 Biomarker disease BEFREE These results indicate that the ADLD phenotype associated with LMNB1 duplications is mediated by increased levels of the lamin B1 protein. 21225301 2011
CUI: C1868512
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 		0.530 GeneticVariation disease BEFREE This observation suggests that a mutation in an LMNB1 regulatory sequence underlies the variant ADLD phenotype. 19961535 2010