Gene table of PNKD : paroxysmal nonkinesigenic dyskinesia

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PNKD	OMIM link	Number of associated genes	genes
PS128100	DYSTONIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	18	DRD2, GNAL, ANO3, SLC2A1, KCTD17, HPCA, THAP1, GCH1, PRRT2, ATP1A3, PNKD, PRKRA, COL6A3, TOR1A, CACNA1B, SGCE, TAF1, TUBB4A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
thiolester hydrolase activity	GO:0016790	6.18
cation binding	GO:0043169	1.4
hydroxyacylglutathione hydrolase activity	GO:0004416	8.64
hydrolase activity, acting on ester bonds	GO:0016788	3.1
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
metal ion binding	GO:0046872	1.41