LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Disease: Congenital ichthyosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.020 Biomarker disease BEFREE It previously has been proposed that LBR is the primary sterol Delta(14)-reductase and that HEM dysplasia and ichthyosis are inborn errors of cholesterol synthesis. 17403717 2007
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.020 GeneticVariation disease BEFREE In this study, we identified one nonsense (815ins) and two frameshift mutations (1088insCC and 1884insGGAA) within the Lbr gene of mice homozygous for either of three independent mutations (ic, ic(J) and ic(4J), respectively) at the ichthyosis locus. 12490533 2003