Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 Biomarker GENOMICS_ENGLAND Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. 21935284

2011
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 Biomarker GENOMICS_ENGLAND Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. 21935284

2011
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 Biomarker CTD_human Amantadine suppressed severe levodopa-induced choreic dyskinesia, which developed at initiation of levodopa therapy, in two siblings manifesting dystonia with motor delay phenotype of GTP cyclohydrolase I deficiency caused by compound heterozygous GCH1 mutations. 15389992

2004