LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 GeneticVariation CLINVAR Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. 27830109 2016
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		0.800 GeneticVariation UNIPROT The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. 27336722 2016
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 GeneticVariation CLINVAR The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. 27336722 2016
dbSNP: rs587777172
rs587777172
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		0.800 GeneticVariation UNIPROT The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. 27336722 2016
dbSNP: rs573510559
rs573510559
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs573510559
rs573510559
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.800 GeneticVariation UNIPROT Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 23824842 2013
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		0.800 GeneticVariation UNIPROT Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. 21327084 2012
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 GeneticVariation CLINVAR Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. 21327084 2012
dbSNP: rs587777172
rs587777172
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		0.800 GeneticVariation UNIPROT Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. 21327084 2012
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 GeneticVariation CLINVAR The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the LBR gene in the third affected fetus. 18382993 2008
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		0.800 GeneticVariation UNIPROT Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. 12618959 2003
dbSNP: rs587777172
rs587777172
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		0.800 GeneticVariation UNIPROT Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. 12618959 2003
dbSNP: rs200180113
rs200180113
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0748397
Disease:
Reynolds syndrome 		0.800 GeneticVariation UNIPROT
dbSNP: rs200180113
rs200180113
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0748397
Disease:
Reynolds syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs200180113
rs200180113
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0748397
Disease:
Reynolds syndrome 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs573510559
rs573510559
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777171
rs587777171
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777172
rs587777172
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs7406
rs7406
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4023351
Disease:
Hyposegmentation of neutrophil nuclei 		A 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly 		A 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs374343844
rs374343844
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.700 GeneticVariation UNIPROT 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
dbSNP: rs374343844
rs374343844
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.700 GeneticVariation UNIPROT Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 23824842 2013
dbSNP: rs137852605
rs137852605
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly 		0.700 GeneticVariation UNIPROT Lamin B-receptor mutations in Pelger-Huët anomaly. 14617022 2003
dbSNP: rs137852606
rs137852606
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly 		0.700 GeneticVariation UNIPROT Lamin B-receptor mutations in Pelger-Huët anomaly. 14617022 2003