Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation CLINVAR Dermal eosinophilic infiltrate in junctional epidermolysis bullosa. 25950805

2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation CLINVAR Junctional epidermolysis bullosa with LAMB3 splice-site mutations. 25708563

2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation CLINVAR Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. 23278291

2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation CLINVAR Junctional epidermolysis bullosa with LAMB3 splice-site mutations. 25708563

2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 Biomarker MGD A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse. 25350318

2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation CLINVAR Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. 24947307

2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation CLINVAR Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. 22931927

2013
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856

2006
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856

2006
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation 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
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation CLINVAR Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins. 15725250

2005
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation CLINVAR Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 15373767

2004
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757

2003
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 CausalMutation CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757

2003
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.920 GeneticVariation CLINVAR Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. 11810295

2002