Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 Biomarker disease GENOMICS_ENGLAND A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region. 27220909 2016
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 CausalMutation disease CLINVAR Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. 23278291 2015
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 CausalMutation disease CLINVAR Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. 22931927 2013
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 GeneticVariation disease UNIPROT Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 17476356 2007
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 CausalMutation disease CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 GeneticVariation disease CLINVAR Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. 12485428 2002
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 Biomarker disease GENOMICS_ENGLAND A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 10792571 2000
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 CausalMutation disease CLINVAR Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. 11023379 2000
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 GeneticVariation disease UNIPROT A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 10792571 2000
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 Biomarker disease GENOMICS_ENGLAND Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 10484780 1999
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 GeneticVariation disease CLINVAR Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 10484780 1999
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 Biomarker disease GENOMICS_ENGLAND Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. 9856855 1998
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 GeneticVariation disease UNIPROT E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. 9767254 1998
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 Biomarker disease MGD IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa. 9271670 1997
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 Biomarker disease MGD Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. 8707838 1996
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 Biomarker disease CTD_human
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 CausalMutation disease CLINVAR
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.900 GeneticVariation disease CLINVAR
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.900 Biomarker disease CTD_human
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		0.800 Biomarker disease GENOMICS_ENGLAND Laminin γ2 knockout mice rescued with the human protein exhibit enamel maturation defects. 26956061 2017
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		0.800 GeneticVariation disease CLINVAR Laminin: loss-of-function studies. 27696112 2017
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.800 Biomarker disease GENOMICS_ENGLAND Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. 27827380 2016
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		0.800 Biomarker disease CTD_human Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice. 24550734 2014