| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.900 | Biomarker | disease | GENOMICS_ENGLAND | A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region. | 27220909 | 2016 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. | 23278291 | 2015 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. | 22931927 | 2013 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. | 17476356 | 2007 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. | 16473856 | 2006 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. | 11023379 | 2000 | ||||
|
0.900 | Biomarker | disease | GENOMICS_ENGLAND | Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. | 9856855 | 1998 | ||||
|
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 | ||||
|
0.900 | Biomarker | disease | MGD | IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa. | 9271670 | 1997 | ||||
|
0.900 | Biomarker | disease | CTD_human | |||||||
|
0.900 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.900 | GeneticVariation | disease | CLINVAR |