Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.020 Biomarker BEFREE LBR is also associated with the autosomal recessive anadysplasia-like spondylometaphyseal dysplasia, and the autosomal dominant Pelger-Huët anomaly, a benign laminopathy characterized by anomalies in the nuclear shape of blood granulocytes. 30561119

2019
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.020 GeneticVariation BEFREE An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. 25348816

2015