Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
0.410 Biomarker phenotype GENOMICS_ENGLAND Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
0.410 GeneticVariation phenotype BEFREE Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders. 25864721 2015
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
0.410 Biomarker phenotype HPO