| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.040 | GeneticVariation | BEFREE | Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1. | 17041576 | 2007 |
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0.040 | GeneticVariation | BEFREE | Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. | 15175914 | 2004 |
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0.040 | GeneticVariation | BEFREE | Two point mutations, E786D and R787C, in ROS-GC1 have been connected with cone-rod dystrophy (CORD6), with only one type of point mutation occurring in each family. | 10529237 | 1999 |
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|
0.040 | GeneticVariation | BEFREE | A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. | 9618177 | 1998 |
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|
0.020 | GeneticVariation | BEFREE | Two point mutations, E786D and R787C, in ROS-GC1 have been connected with cone-rod dystrophy (CORD6), with only one type of point mutation occurring in each family. | 10529237 | 1999 |
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|
0.020 | GeneticVariation | BEFREE | A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. | 9618177 | 1998 |
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|
0.010 | GeneticVariation | BEFREE | Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. | 15175914 | 2004 |
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|
0.010 | GeneticVariation | BEFREE | A heterozygous, triple mutation -E786D, R787C, T788M- in ROS-GC1 has been connected with autosomal cone-rod dystrophy in a British family. | 11027131 | 2000 |