DisGeNET - a database of gene-disease associations

Dopa-Responsive Dystonia, C1851920

Variant: rs104894433 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.

17101830

2006

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

12391354

2002

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.

11113234

2000

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

10825351

2000

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

10987649

1999

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.

10582612

1999

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.

10208576

1999

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.

10076897

1999

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Dopa-responsive dystonia: a clinical and molecular genetic study.

9778264

1998

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.

9328244

1997

dbSNP:

rs104894433

GCH1

0.800

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

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

8852666

1996

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.

8957022

1996

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

7501255

1995

dbSNP:

rs104894433

GCH1

0.800

GeneticVariation

UNIPROT

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

7874165

1994

dbSNP:

rs104894433

GCH1

0.800

CausalMutation

CLINVAR