Gene table of PCDH19 : protocadherin 19

Gene-disease associations table

Disease IDDisease nameSource of annotation with PCDH19OMIM linkNumber of associated genesgenes
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 37KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene PCDH19

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 termGO IDGO IC
metal ion bindingGO:00468721.41
ion bindingGO:00431671.36
bindingGO:00054880.18
cation bindingGO:00431691.4
calcium ion bindingGO:00055093.17