Disease ID | Disease name | Source of annotation with SCN1A | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
609634 | MIGRAINE, FAMILIAL HEMIPLEGIC, 3 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SCN1A |
606369 | MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | ClinVar | link to OMIM | 1 | SCN1A |
PS121210 | SEIZURES, FAMILIAL FEBRILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | SCN1A, CPA6, SCN9A, ADGRV1, GABRG2 |
PS604233 | EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | GABRD, STX1B, SCN9A, SCN1A, GABRG2, SCN1B |
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
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Dopaminergic synapse | hsa04728 | 5.69 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Axon guidance | R-HSA-422475 | 3.93 |
Interaction between L1 and Ankyrins | R-HSA-445095 | 8.03 |
L1CAM interactions | R-HSA-373760 | 6.19 |
Developmental Biology | R-HSA-1266738 | 3.48 |
GO term | GO ID | GO IC |
---|---|---|
cation channel activity | GO:0005261 | 4.04 |
binding | GO:0005488 | 0.18 |
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential | GO:1905030 | 6.74 |
substrate-specific channel activity | GO:0022838 | 3.67 |
cation binding | GO:0043169 | 1.4 |
sodium ion transmembrane transporter activity | GO:0015081 | 4.83 |
transmembrane transporter activity | GO:0022857 | 2.82 |
ion binding | GO:0043167 | 1.36 |
passive transmembrane transporter activity | GO:0022803 | 3.6 |
metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
metal ion binding | GO:0046872 | 1.41 |
sodium channel activity | GO:0005272 | 6.13 |
transporter activity | GO:0005215 | 2.57 |
ion channel activity | GO:0005216 | 3.71 |
cation transmembrane transporter activity | GO:0008324 | 3.32 |
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
sodium ion binding | GO:0031402 | 7.1 |
alkali metal ion binding | GO:0031420 | 6.69 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
voltage-gated channel activity | GO:0022832 | 4.49 |
monovalent inorganic cation transmembrane transporter activity | GO:0015077 | 3.87 |
channel activity | GO:0015267 | 3.6 |
gated channel activity | GO:0022836 | 3.96 |
voltage-gated sodium channel activity | GO:0005248 | 6.74 |
voltage-gated ion channel activity | GO:0005244 | 4.49 |