LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		1.000 CausalMutation disease CLINVAR
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		1.000 Biomarker disease CTD_human
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 Biomarker disease CTD_human
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		0.800 CausalMutation disease CLINVAR
CUI: C0748397
Disease: Reynolds syndrome
Reynolds syndrome 		0.710 GeneticVariation disease CLINVAR
CUI: C0748397
Disease: Reynolds syndrome
Reynolds syndrome 		0.710 Biomarker disease CTD_human
CUI: C0748397
Disease: Reynolds syndrome
Reynolds syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C4747922
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		0.700 CausalMutation disease CLINVAR
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease HPO
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.400 Biomarker disease HPO
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		0.400 Biomarker disease HPO
CUI: C3179244
Disease: Pseudo Pelger-Huet Anomaly
Pseudo Pelger-Huet Anomaly 		0.300 Biomarker phenotype CTD_human
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.110 Biomarker disease HPO
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 Biomarker disease HPO
CUI: C0003864
Disease: Arthritis
Arthritis 		0.100 Biomarker disease HPO
CUI: C0003962
Disease: Ascites
Ascites 		0.100 Biomarker phenotype HPO
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.100 Biomarker phenotype HPO
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.100 Biomarker disease HPO
CUI: C0015230
Disease: Exanthema
Exanthema 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO