Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.030 GeneticVariation 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
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.030 GeneticVariation 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
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.030 Biomarker BEFREE Dopa-responsive dystonia simulating cerebral palsy. 7880338

1994