Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.360 | GeneticVariation | disease | BEFREE | Autosomal recessive congenital hereditary endothelial dystrophy (AR-CHED or CHED2) is a bilateral corneal disorder manifesting at birth or in early childhood. | 17679935 | 2007 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | Multiple relatives were affected with PPMD with apparent autosomal dominant inheritance, but surprisingly, the PPMD, congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses. | 12654361 | 2003 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | Nine other genes positioned just outside of the common PPCD1 support interval but within the autosomal-dominant congenital hereditary endothelial dystrophy interval were also screened. | 19574904 | 2009 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. | 10512674 | 1999 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | Congenital hereditary endothelial dystrophy (CHED, formerly CHED2) is most likely only an autosomal recessive disorder. | 25564336 | 2015 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that have been genetically mapped to overlapping loci on the short arm of chromosome 20. | 26749309 | 2016 | ||||
|
0.360 | GermlineCausalMutation | disease | ORPHANET | Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that have been genetically mapped to overlapping loci on the short arm of chromosome 20. | 26749309 | 2016 |