Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities and neurodevelopmental delay (Pierson Syndrome). 31769495 2020
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE Mutations in LAMB2 that impact the synthesis or function of laminin α5β2γ1 (LM-521) cause Pierson syndrome (congenital nephrotic syndrome with eye and neurological defects) and its less severe variants, including isolated congenital nephrotic syndrome. 29673759 2018
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE Congenital nephrotic syndrome (CNS) is primarily a monogenetic disease, with the majority of cases due to changes in five different genes: the nephrin (NPHS1), podocin (NPHS2), Wilms tumor 1 (WT1), laminin ß2 (LAMB2), and phospholipase C epsilon 1 (PLCE1, NPHS3) gene. 29663071 2018
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE Pierson syndrome, an autosomal recessive disorder caused by a mutation in laminin ß2 (LAMB2) gene, is characterized by congenital nephrotic syndrome and various ocular abnormalities. 30120985 2018
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE Mutation of the LAMB2 gene is associated with Pierson syndrome, which is an autosomal recessive disorder characterized by congenital nephrotic syndrome and ocular abnormalities. 29094445 2017
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE What is known • LAMB2 mutations are associated with Pierson syndrome • Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new • A novel mutation in the LAMB2 gene in two female siblings • Genotype and clinical phenotype description of a novel LAMB2 mutation. 28188379 2017
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE Mutations of the LAMB2 and NPHP1 are present in infants with isolated CNS. 27004562 2016
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 Biomarker disease BEFREE NPHS1, NPHS2, LAMB2 and the eighth and ninth exons of WT1 were sequenced in 80 and 22 patients with CNS and INS, respectively. 25720465 2015
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE Four rare variants were identified in gene encoding Laminin beta2 (LAMB2) which is known to cause congenital nephrotic syndrome. 26108971 2015
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE In contrast, patients with LAMB2 missense mutations, such as R246Q, can have less severe extrarenal defects but still exhibit congenital nephrotic syndrome. 21511833 2011
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 Biomarker disease BEFREE Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes.LAMB2 was the causative gene. 19861315 2010
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease 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
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin beta2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria. 18278520 2008
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 GeneticVariation disease BEFREE To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations. 16450351 2006
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
0.100 Biomarker disease BEFREE These findings demonstrate that the spectrum of LAMB2-associated disorders is broader than previously anticipated and includes congenital nephrotic syndrome without eye anomalies or with minor ocular changes different from those observed in Pierson syndrome. 16912710 2006