Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm. 28561256 2018
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. 27480391 2017
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing. 28392661 2017
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Dermal eosinophilic infiltrate in junctional epidermolysis bullosa. 25950805 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Junctional epidermolysis bullosa with LAMB3 splice-site mutations. 25708563 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. 23278291 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Junctional epidermolysis bullosa with LAMB3 splice-site mutations. 25708563 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 Biomarker disease MGD A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse. 25350318 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. 24947307 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. 22931927 2013
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. 21801158 2011
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. 21801158 2011
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 17476356 2007
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 16971478 2007
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. 15538630 2005
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. 15538630 2005
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins. 15725250 2005
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 15373767 2004
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757 2003
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 CausalMutation disease CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757 2003
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.920 GeneticVariation disease CLINVAR Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. 11810295 2002