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: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1859461
Disease:
Femoral bowing
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0878659
Disease:
Disproportionate short stature
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4023039
Disease:
Rhizomelic leg shortening
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1854912
Disease:
Short long bone
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C3494422
Disease:
Retrognathia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516045
rs1057516045
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1969532
Disease:
Rhizomelic arm shortening
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1236962991
rs1236962991
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0265275
Disease:
Jeune thoracic dystrophy
T 0.700 CausalMutation CLINVAR
dbSNP: rs1558655670
rs1558655670
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
TTTCTCATCA 0.700 CausalMutation CLINVAR
dbSNP: rs387906416
rs387906416
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly
CTTCTAG 0.700 CausalMutation CLINVAR
dbSNP: rs387906416
rs387906416
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia
CTTCTAG 0.700 CausalMutation CLINVAR
dbSNP: rs863223326
rs863223326
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia
T 0.700 CausalMutation CLINVAR
dbSNP: rs863223326
rs863223326
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs886037616
rs886037616
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C4747922
Disease:
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
T 0.700 CausalMutation CLINVAR
dbSNP: rs886037616
rs886037616
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease:
Pelger-Huet Anomaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs886037655
rs886037655
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C2931048
Disease:
HEM dysplasia
T 0.700 CausalMutation CLINVAR
dbSNP: rs536366620
rs536366620
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1142553
Disease:
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
dbSNP: rs142747191
rs142747191
Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0423773
Disease:
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