Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia
0.410 Biomarker phenotype GENOMICS_ENGLAND Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.410 GeneticVariation phenotype BEFREE Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918 2019
CUI: C0013421
Disease: Dystonia
Dystonia
0.410 GeneticVariation phenotype CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918 2019