| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB. | 26763448 | 2016 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. | 24947307 | 2015 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family. | 26102279 | 2015 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. | 24032424 | 2013 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. | 21471992 | 2011 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | Revertant mosaicism in recessive dystrophic epidermolysis bullosa. | 20357813 | 2010 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. | 10504458 | 1999 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | Haplotype analysis revealed that the mutations existed on similar allelic backgrounds in different patients, consistent with propagation of common British ancestral haplotypes, although R578X and 7786delG also have been described in DEB patients from other ethnic backgrounds. | 9242516 | 1997 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | 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 | |||||
Epidermolysis Bullosa Dystrophica
|
0.700 | CausalMutation | CLINVAR | A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. | 7833933 | 1994 | |||||
Epidermolysis Bullosa Pruriginosa
|
0.700 | CausalMutation | CLINVAR | ||||||||
Transient bullous dermolysis of the newborn
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Epidermolysis bullosa, pretibial
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormal blistering of the skin
|
0.700 | CausalMutation | CLINVAR | ||||||||
TOENAIL DYSTROPHY, ISOLATED
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hallopeau-Siemens Disease
|
0.700 | CausalMutation | CLINVAR | ||||||||
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
|
0.700 | CausalMutation | CLINVAR |