Disease ID | Disease name | Source of annotation with NECAP1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM | 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 |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Membrane Trafficking | R-HSA-199991 | 5.26 |
trans-Golgi Network Vesicle Budding | R-HSA-199992 | 6.85 |
Golgi Associated Vesicle Biogenesis | R-HSA-432722 | 7.23 |
Clathrin derived vesicle budding | R-HSA-421837 | 6.85 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |