| Disease ID | Disease name | Source of annotation with GFPT1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 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 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Alanine, aspartate and glutamate metabolism | hsa00250 | 7.64 |
| Metabolic pathways | hsa01100 | 2.49 |
| Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Defective GFPT1 causes CMSTA1 | R-HSA-4085023 | 12.98 |
| Unfolded Protein Response (UPR) | R-HSA-381119 | 6.56 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
| Diseases associated with glycosylation precursor biosynthesis | R-HSA-5609975 | 9.08 |
| Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
| Synthesis of UDP-N-acetyl-glucosamine | R-HSA-446210 | 10.66 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| XBP1(S) activates chaperone genes | R-HSA-381038 | 7.25 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| IRE1alpha activates chaperones | R-HSA-381070 | 7.2 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| L-glutamine aminotransferase activity | GO:0070548 | 9.05 |
| glutamine-fructose-6-phosphate transaminase (isomerizing) activity | GO:0004360 | 9.05 |
| catalytic activity | GO:0003824 | 1.05 |
| carboxylic acid binding | GO:0031406 | 4.64 |
| carbohydrate binding | GO:0030246 | 4.17 |
| ion binding | GO:0043167 | 1.36 |
| transaminase activity | GO:0008483 | 6.74 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| amino acid binding | GO:0016597 | 5.71 |
| transferase activity, transferring nitrogenous groups | GO:0016769 | 6.65 |