LAMC2, laminin subunit gamma 2, 3918

N. diseases: 602; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 Biomarker disease GENOMICS_ENGLAND Laminin γ2 knockout mice rescued with the human protein exhibit enamel maturation defects. 26956061 2017
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 GeneticVariation disease CLINVAR Laminin: loss-of-function studies. 27696112 2017
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 CausalMutation disease CLINVAR Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. 17916201 2008
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 GeneticVariation disease CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 Biomarker disease GENOMICS_ENGLAND Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 CausalMutation disease CLINVAR Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 15373767 2004
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 GeneticVariation disease CLINVAR Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 15373767 2004
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 Biomarker disease MGD Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. 14632187 2003
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 GeneticVariation disease CLINVAR Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. 11810295 2002
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 GeneticVariation disease CLINVAR Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. 11564184 2001
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 GeneticVariation disease CLINVAR Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? 11231327 2001
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 CausalMutation disease CLINVAR Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa. 9085255 1997
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 CausalMutation disease CLINVAR Molecular complexity of the cutaneous basement membrane zone. 8983017 1996
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 GeneticVariation disease CLINVAR A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. 7849725 1994
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 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: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 CausalMutation disease CLINVAR 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: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 AlteredExpression disease BEFREE Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? 1499575 1992
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 Biomarker disease CTD_human
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.800 GeneticVariation disease BEFREE Recessive mutations in the LAMA3, LAMB3 and LAMC2 genes that encode laminin-332 (LM332) (α3a, β3 and γ2 chains, respectively) cause different junctional epidermolysis bullosa (JEB) subtypes. 28561256 2018
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: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.800 GeneticVariation disease BEFREE Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 332 (LM-332) are among the genes causing JEB. 27827380 2016
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.800 GeneticVariation disease BEFREE Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by a split in the lamina lucida usually because of mutations in LAMA3, LAMB3 and LAMC2 resulting in absence or reduction of laminin-332. 25950805 2015
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.800 GeneticVariation disease BEFREE Altered function of laminin-332 (α3β3γ2) consequent to mutations in the LAMA3, LAMB3 and LAMC2 genes causes junctional epidermolysis bullosa non-Herlitz (JEB-nH). 24387836 2014