| Disease ID | Disease name | Source of annotation with MAN1B1 | 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 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Protein processing in endoplasmic reticulum | hsa04141 | 5.35 |
| N-Glycan biosynthesis | hsa00510 | 7.07 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Defective MAN1B1 causes MRT15 | R-HSA-4793950 | 12.98 |
| Calnexin/calreticulin cycle | R-HSA-901042 | 9.52 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| N-glycan trimming in the ER and Calnexin/Calreticulin cycle | R-HSA-532668 | 9.28 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Diseases associated with N-glycosylation of proteins | R-HSA-3781860 | 8.89 |
| ER Quality Control Compartment (ERQC) | R-HSA-901032 | 10.4 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| mannosyl-oligosaccharide mannosidase activity | GO:0015924 | 7.44 |
| mannosidase activity | GO:0015923 | 6.91 |
| cation binding | GO:0043169 | 1.4 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| mannosyl-oligosaccharide 1,2-alpha-mannosidase activity | GO:0004571 | 7.66 |
| binding | GO:0005488 | 0.18 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
| metal ion binding | GO:0046872 | 1.41 |
| alpha-mannosidase activity | GO:0004559 | 7.03 |
| calcium ion binding | GO:0005509 | 3.17 |