RDH12, retinol dehydrogenase 12, 145226
N. diseases: 56; N. variants: 24
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. | 15322982 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. | 15258582 | 2004 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. | 15258582 | 2004 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. | 15322982 | 2004 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. | 15322982 | 2004 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. | 15258582 | 2004 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. | 15258582 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. | 15322982 | 2004 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | RDH12 retinopathy: novel mutations and phenotypic description. | 22065924 | 2011 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. | 15322982 | 2004 | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. | 15258582 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. | 15322982 | 2004 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. | 24474277 | 2014 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. | 26306921 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. | 29186038 | 2017 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. | 26497376 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. | 15258582 | 2004 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. | 15322982 | 2004 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. | 26355662 | 2016 |