| Disease ID | Disease name | Source of annotation with GAD1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS603513 | SPASTIC QUADRIPLEGIC CEREBRAL PALSY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | KANK1, GAD1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Alanine, aspartate and glutamate metabolism | hsa00250 | 7.64 |
| Taurine and hypotaurine metabolism | hsa00430 | 9.45 |
| GABAergic synapse | hsa04727 | 6.24 |
| Type I diabetes mellitus | hsa04940 | 6.79 |
| Butanoate metabolism | hsa00650 | 7.96 |
| beta-Alanine metabolism | hsa00410 | 7.72 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Neuronal System | R-HSA-112316 | 4.82 |
| GABA synthesis | R-HSA-888568 | 11.98 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| GABA synthesis, release, reuptake and degradation | R-HSA-888590 | 8.73 |
| Neurotransmitter Release Cycle | R-HSA-112310 | 7.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| carboxylic acid binding | GO:0031406 | 4.64 |
| lyase activity | GO:0016829 | 4.53 |
| carbon-carbon lyase activity | GO:0016830 | 5.81 |
| carboxy-lyase activity | GO:0016831 | 6.15 |
| glutamate decarboxylase activity | GO:0004351 | 8.64 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| ion binding | GO:0043167 | 1.36 |
| glutamate binding | GO:0016595 | 7.54 |
| pyridoxal phosphate binding | GO:0030170 | 5.83 |