Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.710 Biomarker disease GENOMICS_ENGLAND Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. 27827380 2016
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.710 GermlineCausalMutation disease ORPHANET A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome. 23869449 2013
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.710 GeneticVariation disease BEFREE On investigation, our patient had a combination of a unique mutation in LAMA3 and the mutation I17N in LAMA3a, providing further evidence that laryngo-onycho-cutaneous syndrome is a variant of junctional EB. 17362460 2007
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.710 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
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.710 GermlineCausalMutation disease ORPHANET An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. 12915477 2003
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.710 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
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.710 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
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		0.710 CausalMutation disease CLINVAR