LAMA3, laminin subunit alpha 3, 3909

N. diseases: 110; N. variants: 86
Disease: Herlitz Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 Biomarker disease GENOMICS_ENGLAND Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. 27827380 2016
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. 27375110 2016
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. 27827380 2016
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 GeneticVariation disease CLINVAR Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa. 22434185 2012
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 16971478 2007
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. 17362460 2007
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 GeneticVariation disease CLINVAR Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 16473856 2006
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 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 		0.610 GeneticVariation disease CLINVAR A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa. 12943669 2003
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 Biomarker disease CTD_human An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. 12915477 2003
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757 2003
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation 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 		0.610 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 		0.610 CausalMutation disease CLINVAR Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. 9160387 1997
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. 8618022 1996
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 Biomarker disease GENOMICS_ENGLAND A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. 8618022 1996
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR Molecular complexity of the cutaneous basement membrane zone. 8983017 1996
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. 7633458 1995
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 Biomarker disease GENOMICS_ENGLAND A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. 8530087 1995
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 CausalMutation disease CLINVAR A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. 8530087 1995
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.610 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 		0.610 Biomarker disease GENOMICS_ENGLAND