LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 GeneticVariation disease BEFREE Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy. 30192380 2019
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 Biomarker disease BEFREE Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies. 27854160 2016
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 GeneticVariation disease BEFREE LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course. 26053668 2015
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 AlteredExpression disease BEFREE Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts. 24858279 2014
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 Biomarker disease BEFREE Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. 23676464 2013
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 Biomarker disease BEFREE Prior to this report, such a phenotype had been speculated to represent an entity different from lamin B1-duplicated leukodystrophy. 23681646 2013
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 GeneticVariation disease BEFREE Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. 23649844 2013
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 GeneticVariation disease BEFREE A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 19961535 2010
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 GeneticVariation disease BEFREE Duplication in LMNB1 encoding lamin B1 causes autosomal dominant leukodystrophy and mutations in LMNB2 encoding lamin B2 are associated with acquired partial lipodystrophy. 17467691 2007
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 GeneticVariation disease BEFREE Lamin B1 duplications cause autosomal dominant leukodystrophy. 16951681 2006
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.200 Biomarker disease HPO