rs137852757, LAMA3

N. diseases: 1
Disease: Herlitz Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Herlitz Disease
CUI: C0079683
Disease: Herlitz Disease
0.700 CausalMutation CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757 2003
Herlitz Disease
CUI: C0079683
Disease: Herlitz Disease
0.700 CausalMutation CLINVAR Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. 9160387 1997
Herlitz Disease
CUI: C0079683
Disease: Herlitz Disease
0.700 CausalMutation CLINVAR Molecular complexity of the cutaneous basement membrane zone. 8983017 1996
Herlitz Disease
CUI: C0079683
Disease: Herlitz Disease
0.700 CausalMutation 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
Herlitz Disease
CUI: C0079683
Disease: Herlitz Disease
0.700 CausalMutation 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
Herlitz Disease
CUI: C0079683
Disease: Herlitz Disease
0.700 CausalMutation CLINVAR A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. 7633458 1995