LAMC2, laminin subunit gamma 2, 3918

N. diseases: 602; N. variants: 66
Disease: Adult junctional epidermolysis bullosa (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Laminin γ2 knockout mice rescued with the human protein exhibit enamel maturation defects. 26956061 2017
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.800 GeneticVariation disease CLINVAR Laminin: loss-of-function studies. 27696112 2017
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		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
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.800 Biomarker disease MGD A mouse model of generalized non-Herlitz junctional epidermolysis bullosa. 20336083 2010
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). 8012394 1994
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.800 CausalMutation disease CLINVAR