FLVCR1, FLVCR heme transporter 1, 28982
N. diseases: 188; N. variants: 12
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. | 27923065 | 2016 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. | 27923065 | 2016 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. | 24628582 | 2015 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. | 24628582 | 2015 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Genetic mapping and exome sequencing identify variants associated with five novel diseases. | 22279524 | 2012 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Genetic mapping and exome sequencing identify variants associated with five novel diseases. | 22279524 | 2012 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. | 21267618 | 2011 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. | 21267618 | 2011 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. | 21070897 | 2010 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. | 21070897 | 2010 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. | 9409377 | 1997 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. | 9409377 | 1997 |