Gene table of PRRT2 : proline rich transmembrane protein 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with PRRT2OMIM linkNumber of associated genesgenes
PS128100DYSTONIAClinVar, OMIM, HUMSAVAR link to OMIM 18DRD2, GNAL, ANO3, SLC2A1, KCTD17, HPCA, THAP1, GCH1, PRRT2, ATP1A3, PNKD, PRKRA, COL6A3, TOR1A, CACNA1B, SGCE, TAF1, TUBB4A
602066CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSISClinVar, OMIM, HUMSAVAR link to OMIM 1PRRT2
PS601764SEIZURES, BENIGN FAMILIAL INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 2PRRT2, SCN2A

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Annotation of the gene PRRT2

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