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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T | 0.800 | 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 | Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. | 26355662 | 2016 | ||||||
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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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0.700 | GeneticVariation | UNIPROT | Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. | 26124963 | 2015 | |||||||
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C | 0.700 | CausalMutation | CLINVAR | Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. | 26047050 | 2015 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. | 24474277 | 2014 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. | 23847139 | 2013 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | RDH12 retinopathy: novel mutations and phenotypic description. | 22065924 | 2011 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | RDH12 retinopathy: novel mutations and phenotypic description. | 22065924 | 2011 | ||||||
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0.700 | GeneticVariation | UNIPROT | Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. | 19140180 | 2009 | |||||||
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0.700 | GeneticVariation | UNIPROT | Molecular characterization of retinitis pigmentosa in Saudi Arabia. | 19956407 | 2009 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. | 17389517 | 2007 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. | 17389517 | 2007 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. | 17964524 | 2007 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. | 16269441 | 2005 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. | 16269441 | 2005 | ||||||
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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 | Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. | 15322982 | 2004 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT |