Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		disease 1.000 strong 0.944 18 6 2002 2019
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		disease 0.800 strong 0.933 15 5 1993 2019
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0748397
Disease: Reynolds syndrome
Reynolds syndrome 		disease 0.710 strong 1.000 2 1 2010 2013
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C4747922
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		disease 0.700 moderate 1.000 5 4 2003 2015
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0549306
Disease: Mesomelia
Mesomelia 		disease 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C3179244
Disease: Pseudo Pelger-Huet Anomaly
Pseudo Pelger-Huet Anomaly 		phenotype 0.300 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.220 None 1.000 2 0 1988 2016
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		disease 0.200 None 1.000 1 0 2007 2007
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease 0.110 None < 0.001 1 0 2009 2009
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease 0.110 None < 0.001 1 0 2009 2009
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C4023351
Disease: Hyposegmentation of neutrophil nuclei
Hyposegmentation of neutrophil nuclei 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		disease 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia 		phenotype 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0595939
Disease: Stillbirth
Stillbirth 		phenotype 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		disease 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		phenotype 0.100 None 0 0