Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 CausalMutation disease CLINVAR
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5 		0.010 Biomarker disease BEFREE Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. 22228401 2012
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease BEFREE LAMB2 mutations leading to lack of laminin beta2 were identified as the molecular cause underlying Pierson syndrome. 17256789 2007
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease BEFREE LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria. 27004562 2016
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease BEFREE LAMB2 mutations were confirmed in all the three cases, two presented with Pierson syndrome, while one presented with isolated infantile steroid-resistant nephrotic syndrome. 27925579 2017
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease BEFREE A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. 27130041 2016
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease BEFREE A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. 21236492 2011
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 Biomarker disease MGD Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. 7885444 1995
Entrez Id: 23371
Gene Symbol: TNS2
TNS2 		0.200 Biomarker disease MGD Characteristics of mutant mice (ICGN) with spontaneous renal lesions: a new model for human nephrotic syndrome. 2523501 1989
Entrez Id: 23371
Gene Symbol: TNS2
TNS2 		0.200 Biomarker disease MGD Deficiency of the tensin2 gene in the ICGN mouse: an animal model for congenital nephrotic syndrome. 16688531 2006
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 Biomarker disease GENOMICS_ENGLAND Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. 16097004 2005
Entrez Id: 23371
Gene Symbol: TNS2
TNS2 		0.200 Biomarker disease MGD Development of nephrotic ICGN mice--the origin, reproductive ability, and incidence of glomerulonephritis. 2806394 1989
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 Biomarker disease MGD Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS. 10531444 1999
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease BEFREE Genetic diseases affecting laminin and type IV collagen synthesis also are presented, with an emphasis on mutations to LAMB2 (Pierson syndrome) and COL4A3, COL4A4, and COL4A5 (Alport syndrome), and their experimental mouse models. 22958488 2012
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		0.010 GeneticVariation disease BEFREE Genetic diseases affecting laminin and type IV collagen synthesis also are presented, with an emphasis on mutations to LAMB2 (Pierson syndrome) and COL4A3, COL4A4, and COL4A5 (Alport syndrome), and their experimental mouse models. 22958488 2012
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 Biomarker disease GENOMICS_ENGLAND Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. 29450879 2018
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940 2010
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 Biomarker disease CTD_human Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 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 		1.000 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 		1.000 Biomarker disease MGD Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome. 24293254 2014
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GeneticVariation disease BEFREE Null mutations in laminin β2 (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects. 21511833 2011
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		1.000 GermlineCausalMutation disease ORPHANET Pierson syndrome - a rare cause of congenital nephrotic syndrome. 24944146 2014