Disease ID | Disease name | Source of annotation with PCDH19 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 37 | KCNT1, 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 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
metal ion binding | GO:0046872 | 1.41 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
cation binding | GO:0043169 | 1.4 |
calcium ion binding | GO:0005509 | 3.17 |