| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.320 | GeneticVariation | disease | BEFREE | This study demonstrates that mutations in the BPAG1 or BPAG2 genes are not the primary genetic defect in this family with EBS. | 1686013 | 1991 | ||||
|
0.320 | GeneticVariation | disease | BEFREE | The few patients described so far with bi-allelic mutations in the DST gene have either a skin phenotype of epidermolysis bullosa simplex or a neurological phenotype. | 28767192 | 2017 | ||||
|
0.320 | Biomarker | disease | GENOMICS_ENGLAND | A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. | 20164846 | 2010 | ||||
|
0.320 | Biomarker | disease | GENOMICS_ENGLAND | Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. | 25059916 | 2015 |