| Disease ID | Disease name | Source of annotation with SCN4A | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 608390 | MYOTONIA, POTASSIUM-AGGRAVATED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SCN4A |
| 168300 | PARAMYOTONIA CONGENITA OF VON EULENBURG | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SCN4A |
| PS601462 | MYASTHENIC SYNDROME, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 23 | LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2 |
| 170400 | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 | ClinVar | link to OMIM | 2 | CACNA1S, SCN4A |
| 613345 | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SCN4A |
| 170500 | HYPERKALEMIC PERIODIC PARALYSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SCN4A |
Download the gene annotation in CSV format
| 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 |
|---|---|---|
| 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 |
| cation channel activity | GO:0005261 | 4.04 |
| sodium ion transmembrane transporter activity | GO:0015081 | 4.83 |
| substrate-specific channel activity | GO:0022838 | 3.67 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| 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 |
| sodium channel activity | GO:0005272 | 6.13 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| voltage-gated ion channel activity | GO:0005244 | 4.49 |
| voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential | GO:1905030 | 6.74 |