| Disease ID | Disease name | Source of annotation with GMPPB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 24 | SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC |
| PS613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | GMPPB, POMT2, LARGE1, FKRP, FKTN, POMGNT1, POMT1 |
| PS236670 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | GMPPB, POMT2, LARGE1, FKRP, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, POMGNT2, ISPD, DAG1, POMGNT1, POMK |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Fructose and mannose metabolism | hsa00051 | 7.72 |
| Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Synthesis of GDP-mannose | R-HSA-446205 | 10.66 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| nucleotide binding | GO:0000166 | 1.96 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| transferase activity | GO:0016740 | 1.95 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| GTP binding | GO:0005525 | 3.78 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| nucleotidyltransferase activity | GO:0016779 | 4.81 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| mannose-1-phosphate guanylyltransferase activity | GO:0004475 | 9.74 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| guanylyltransferase activity | GO:0070568 | 8.13 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| mannose-phosphate guanylyltransferase activity | GO:0008905 | 9.74 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |