Disease ID | Disease name | Source of annotation with PRRT2 | 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 |
602066 | CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PRRT2 |
PS601764 | SEIZURES, BENIGN FAMILIAL INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | PRRT2, SCN2A |
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