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 |
Download the gene annotation in CSV format
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 |