Source: GENOMICS_ENGLAND

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