Gene: GCH1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.030 GeneticVariation disease BEFREE 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 		0.030 GeneticVariation disease BEFREE This case report documents an unusual presentation of dopa-responsive dystonia (DRD) in three siblings (two females, one male) which simulated cerebral palsy (CP) and describes the evolution of their spinal deformity in relation to growth and responsiveness to levodopa therapy. 14974638 2004
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.030 Biomarker disease BEFREE Dopa-responsive dystonia simulating cerebral palsy. 7880338 1994