LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. 26053668 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO