| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. | 20598510 | 2010 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. | 12787275 | 2003 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets. | 11167698 | 2001 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa. | 10620140 | 2000 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. | 10084325 | 1999 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. | 9804332 | 1998 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. | 9740253 | 1998 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. | 9326325 | 1997 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. | 9215684 | 1997 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa. | 9444387 | 1997 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa. | 8618018 | 1996 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. | 8757758 | 1996 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. | 8592061 | 1996 | |||||
Hallopeau-Siemens Disease
|
0.700 | GeneticVariation | UNIPROT | A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. | 8513326 | 1993 |