LAMB2, laminin subunit beta 2, 3913

N. diseases: 116; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		0.100 Biomarker phenotype HPO
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0149520
Disease: Acute Cholecystitis
Acute Cholecystitis 		0.010 Biomarker disease BEFREE The novel ECE-LAMS for high-risk surgical patients with acute cholecystitis is safe, with a high technical and clinical success rate. 28259594 2017
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		0.010 GeneticVariation disease BEFREE However, expression of LAMB2-S83R significantly increased the rate of progression to kidney failure in a <i>Col4a3</i><sup>-/-</sup> mouse model of autosomal recessive Alport syndrome and increased proteinuria in <i>Col4a5</i><sup>+/-</sup> females that exhibit a mild form of X-linked Alport syndrome due to mosaic deposition of collagen <i>α</i>3<i>α</i>4<i>α</i>5(IV) in the GBM. 29263159 2018
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		0.010 GeneticVariation disease BEFREE However, expression of LAMB2-S83R significantly increased the rate of progression to kidney failure in a <i>Col4a3</i><sup>-/-</sup> mouse model of autosomal recessive Alport syndrome and increased proteinuria in <i>Col4a5</i><sup>+/-</sup> females that exhibit a mild form of X-linked Alport syndrome due to mosaic deposition of collagen <i>α</i>3<i>α</i>4<i>α</i>5(IV) in the GBM. 29263159 2018
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 GeneticVariation disease BEFREE Pediatric bipolar disorder and ADHD: family history comparison in the LAMS clinical sample. 22464937 2012
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		0.010 Biomarker disease BEFREE Mutations in nephrin (NPHS1), podocin (NPHS2), laminin β2 (LAMB2), and α-actinin-4 (ACTN4) have been shown to induce ER stress in HEK293 cells and podocytes in hereditary nephrotic syndromes; various founder mutations in collagen IV α chains (COL4A) have been demonstrated to activate podocyte ER stress in collagen IV nephropathies; and mutations in uromodulin (UMOD) have been reported to trigger tubular ER stress in autosomal dominant tubulointerstitial kidney disease. 30099615 2019
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.100 Biomarker phenotype HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 Biomarker group LHGDN Changes in laminin isoforms associated with brain tumor invasion and angiogenesis. 16146715 2006
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C1512433
Disease: Cervical high grade squamous intraepithelial lesion
Cervical high grade squamous intraepithelial lesion 		0.020 Biomarker disease BEFREE Immunosuppressive cytokine Interleukin-10 (IL-10) is up-regulated in high-grade CIN but not associated with high-risk human papillomavirus (HPV) at baseline, outcomes of HR-HPV infections or incident CIN in the LAMS cohort. 19908064 2009
CUI: C1512433
Disease: Cervical high grade squamous intraepithelial lesion
Cervical high grade squamous intraepithelial lesion 		0.020 GeneticVariation disease BEFREE Up-regulation of 14-3-3sigma (Stratifin) is associated with high-grade CIN and high-risk human papillomavirus (HPV) at baseline but does not predict outcomes of HR-HPV infections or incident CIN in the LAMS study. 20093232 2010
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		0.030 AlteredExpression disease BEFREE Baseline cervical biopsies from 225 women of the LAMS study sub-cohort were analyzed for IL-10 expression using immunohistochemistry, to assess its associations with CIN grade, and high-risk HPV (HR-HPV) at baseline, as well as in predicting outcomes of HR-HPV infections, and development of incident CIN1+ and CIN2+ in this longitudinal setting. 19908064 2009
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		0.030 Biomarker disease BEFREE Competing-risks regression models in analysis of biomarkers as predictors of high-risk human papillomavirus (HPV) infection outcomes and incident CIN in the LAMS cohort. 23722514 2013
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		0.030 GeneticVariation disease BEFREE Up-regulation of 14-3-3sigma (Stratifin) is associated with high-grade CIN and high-risk human papillomavirus (HPV) at baseline but does not predict outcomes of HR-HPV infections or incident CIN in the LAMS study. 20093232 2010
CUI: C1332922
Disease: Cervical Squamous Intraepithelial Neoplasia
Cervical Squamous Intraepithelial Neoplasia 		0.030 AlteredExpression disease BEFREE Baseline cervical biopsies from 225 women of the LAMS study sub-cohort were analyzed for IL-10 expression using immunohistochemistry, to assess its associations with CIN grade, and high-risk HPV (HR-HPV) at baseline, as well as in predicting outcomes of HR-HPV infections, and development of incident CIN1+ and CIN2+ in this longitudinal setting. 19908064 2009
CUI: C1332922
Disease: Cervical Squamous Intraepithelial Neoplasia
Cervical Squamous Intraepithelial Neoplasia 		0.030 Biomarker disease BEFREE Competing-risks regression models in analysis of biomarkers as predictors of high-risk human papillomavirus (HPV) infection outcomes and incident CIN in the LAMS cohort. 23722514 2013
CUI: C1332922
Disease: Cervical Squamous Intraepithelial Neoplasia
Cervical Squamous Intraepithelial Neoplasia 		0.030 GeneticVariation disease BEFREE Up-regulation of 14-3-3sigma (Stratifin) is associated with high-grade CIN and high-risk human papillomavirus (HPV) at baseline but does not predict outcomes of HR-HPV infections or incident CIN in the LAMS study. 20093232 2010
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.100 Biomarker disease HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.300 Biomarker group CTD_human Residential Proximity to Major Roadways at Birth, DNA Methylation at Birth and Midchildhood, and Childhood Cognitive Test Scores: Project Viva(Massachusetts, USA). 30226399 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE We describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2). 19251977 2009