Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. | 17101830 | 2006 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. | 12391354 | 2002 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group. | 11113234 | 2000 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? | 10825351 | 2000 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia. | 10076897 | 1999 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia. | 10582612 | 1999 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. | 10208576 | 1999 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation. | 10987649 | 1999 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Dopa-responsive dystonia: a clinical and molecular genetic study. | 9778264 | 1998 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia. | 9120469 | 1997 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. | 9328244 | 1997 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset. | 8957022 | 1996 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. | 8852666 | 1996 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. | 7501255 | 1995 | |||||
Dopa-Responsive Dystonia
|
0.700 | GeneticVariation | UNIPROT | Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. | 7874165 | 1994 |