| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.750 | GeneticVariation | disease | BEFREE | The discovery of collagen, type XVII, alpha 1 mutation (COL17A1), causative in the called epithelial recurrent erosion dystrophy (ERED) was a very important step in the accurate diagnosis of corneal dystrophies. | 31301286 | 2019 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | ERED associated with a COL17A1 mutation has been previously reported in only 6 families, all white. | 29708937 | 2018 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Our study expands the phenotypic spectrum of COL17A1 disease from autosomal recessive epidermolysis bullosa to autosomal dominant ERED and identifies COL17A1 as a key protein in maintaining integrity of the corneal epithelium. | 26786512 | 2016 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24. | 27309958 | 2016 | ||||
|
0.750 | GermlineCausalMutation | disease | ORPHANET | Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology. | 25676728 | 2015 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology. | 25676728 | 2015 | ||||
|
0.750 | GeneticVariation | disease | UNIPROT | Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology. | 25676728 | 2015 | ||||
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND | Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. | 14562173 | 2003 | ||||
|
0.750 | CausalMutation | disease | CLINVAR | |||||||
|
0.750 | Biomarker | disease | CTD_human |