LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: Demyelinating Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		0.030 GeneticVariation group BEFREE We have previously shown that LMNB1 gene duplications cause autosomal dominant leukodystrophy (ADLD), a fatal adult onset demyelinating disease. 26311780 2015
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		0.030 GeneticVariation group BEFREE Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. 23649844 2013
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		0.030 GeneticVariation group BEFREE Genetic localization will lead to cloning and characterization of the ADLD gene and may yield new insights into myelin biology and demyelinating diseases. 10749986 2000