rs200180113
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Reynolds syndrome
0.800
GeneticVariation
UNIPROT
rs573510559
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs573510559
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs587777171
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs587777171
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
HEM dysplasia
0.800
GeneticVariation
UNIPROT
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.
27336722
2016
rs587777171
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs587777172
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs587777172
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
HEM dysplasia
0.800
GeneticVariation
UNIPROT
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.
27336722
2016
rs587777172
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs137852605
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Pelger-Huet Anomaly
0.700
GeneticVariation
UNIPROT
Lamin B-receptor mutations in Pelger-Huët anomaly.
14617022
2003
rs137852606
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Pelger-Huet Anomaly
0.700
GeneticVariation
UNIPROT
Lamin B-receptor mutations in Pelger-Huët anomaly.
14617022
2003
rs374343844
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs374343844
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs7406
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Finding of Mean Corpuscular Hemoglobin
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs142747191
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Scaly skin
0.010
GeneticVariation
BEFREE
Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T, p.G608G ) during skin development results in a severe phenotype, characterized by dry scaly skin .
24305605
2014
rs536366620
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Primary HIV infection
0.010
GeneticVariation
BEFREE
Here, in vitro drug selections compared the development of resistance to DTG, BIC, CAB, EVG and RAL using clinical isolates from treatment-naïve primary HIV infection (PHI ) cohort participants (n = 12), and pNL4.3 recombinant strains encoding patient-derived Integrase with (n = 5) and without (n = 5) the E157Q substitution.
30119633
2018
rs200180113
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Reynolds syndrome
A
0.800
CausalMutation
CLINVAR
rs200180113
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Reynolds syndrome
A
0.800
GeneticVariation
CLINVAR
rs1057516045
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs1057516045
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Femoral bowing
A
0.700
GeneticVariation
CLINVAR
rs1057516045
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Disproportionate short stature
A
0.700
GeneticVariation
CLINVAR
rs1057516045
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Rhizomelic leg shortening
A
0.700
GeneticVariation
CLINVAR
rs1057516045
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
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
rs1057516045
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Short long bone
A
0.700
GeneticVariation
CLINVAR
rs1057516045
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
Retrognathia
A
0.700
GeneticVariation
CLINVAR