Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.800 | CausalMutation | CLINVAR | Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients. | 23211702 | 2013 |
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T | 0.800 | CausalMutation | CLINVAR | A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population. | 20491893 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on diagnosis and treatment of primary dystonias. | 20482602 | 2011 |
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T | 0.800 | CausalMutation | CLINVAR | High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. | 20082337 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. | 20108370 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. | 19332422 | 2009 |
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T | 0.800 | CausalMutation | CLINVAR | A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. | 11486899 | 2001 |
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|
T | 0.800 | CausalMutation | CLINVAR | Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia. | 10984670 | 2000 |
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T | 0.800 | CausalMutation | CLINVAR | Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. | 8852666 | 1996 |