Disease ID | Disease name | Source of annotation with HPCA | 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 |
---|---|---|
cation binding | GO:0043169 | 1.4 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
enzyme binding | GO:0019899 | 2.27 |
ion binding | GO:0043167 | 1.36 |
actin binding | GO:0003779 | 3.74 |
kinase binding | GO:0019900 | 3.32 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
calcium ion binding | GO:0005509 | 3.17 |