| Disease ID | Disease name | Source of annotation with GPT2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 31 | ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L |
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| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Biosynthesis of amino acids | hsa01230 | 6.58 |
| Alanine, aspartate and glutamate metabolism | hsa00250 | 7.64 |
| Metabolic pathways | hsa01100 | 2.49 |
| 2-Oxocarboxylic acid metabolism | hsa01210 | 8.68 |
| Carbon metabolism | hsa01200 | 6.03 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Amino acid synthesis and interconversion (transamination) | R-HSA-70614 | 8.89 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| catalytic activity | GO:0003824 | 1.05 |
| L-alanine:2-oxoglutarate aminotransferase activity | GO:0004021 | 9.05 |
| ion binding | GO:0043167 | 1.36 |
| transaminase activity | GO:0008483 | 6.74 |
| transferase activity | GO:0016740 | 1.95 |
| cofactor binding | GO:0048037 | 4.16 |
| pyridoxal phosphate binding | GO:0030170 | 5.83 |
| alanine-oxo-acid transaminase activity | GO:0047635 | 9.05 |
| transferase activity, transferring nitrogenous groups | GO:0016769 | 6.65 |
| binding | GO:0005488 | 0.18 |