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: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker disease CTD_human Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker disease MGD Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS. 10531444 1999
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker disease MGD The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. 7670489 1995
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker disease MGD Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. 7885444 1995
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. 29450879 2018
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 GeneticVariation disease UNIPROT A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. 21236492 2011
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. 20556798 2010
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 GeneticVariation disease UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 GeneticVariation disease CLINVAR Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. 20556798 2010
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 CausalMutation disease CLINVAR
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 Biomarker disease CTD_human
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.420 GeneticVariation disease BEFREE We therefore determine in this study the relative frequency of mutations in PLCE1, WT1 or LAMB2 as the cause of IDMS in a worldwide cohort. 18065803 2008
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.420 Biomarker disease BEFREE The most common mutations are in 4 genes, 3 of which are podocyte genes: NPHS1 (Finnish nephropathy), NPHS2 (podocin-induced focal segmental glomerulosclerosis), WT1 (diffuse mesangial sclerosis), and LAMB2 (Pierson syndrome). 18462046 2008
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.420 Biomarker disease CTD_human Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.420 Biomarker disease HPO
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.320 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes: recent advances. 27472506 2016
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.320 GeneticVariation disease BEFREE Human mutations in COLQ, LAMB2, and AGRN cause congenital myasthenic syndromes (CMSs) owing to deficiency of ColQ, laminin-β2, and agrin, respectively. 23278576 2012
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.320 GeneticVariation disease BEFREE Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. 19251977 2009
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: C0033687
Disease: Proteinuria
Proteinuria 		0.300 Biomarker phenotype RGD A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion. 21511833 2011
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007