Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
0.020 GeneticVariation BEFREE Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient. 19399267 2009
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
0.020 GeneticVariation BEFREE To characterize recurrent p.Glu2857X mutations and show how other COL7A1 mutations influence the phenotype in RDEB patients harboring p.Glu2857X. 18440202 2008
Epidermolysis Bullosa Dystrophica
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
0.010 GeneticVariation BEFREE The mutations 5818delC, 6573+1G-->C, and E2857X were detected in 11 Japanese patients (13 alleles) with DEB. 14727126 2004