Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
4351 | MPI | mannose phosphate isomerase | |
5373 | PMM2 | phosphomannomutase 2 | |
7841 | MOGS | mannosyl-oligosaccharide glucosidase | |
8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
9526 | MPDU1 | mannose-P-dolichol utilization defect 1 | |
10559 | SLC35A1 | solute carrier family 35 member A1 | |
22845 | DOLK | dolichol kinase | |
79644 | SRD5A3 | steroid 5 alpha-reductase 3 |
UniProt ID | Protein Name | Source |
---|---|---|
O15305 | Phosphomannomutase 2 | |
O60762 | Dolichol-phosphate mannosyltransferase subunit 1 | |
O75352 | Mannose-P-dolichol utilization defect 1 protein | |
P34949 | Mannose-6-phosphate isomerase | |
P78382 | CMP-sialic acid transporter | |
Q13724 | Mannosyl-oligosaccharide glucosidase |
HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0008947 | Infantile muscular hypotonia |
HP:0000677 | Oligodontia |
HP:0002334 | Abnormal cerebellar vermis morphology |
HP:0000572 | Visual loss |
HP:0001928 | Abnormality of coagulation |
HP:0005107 | Abnormal sacrum morphology |
HP:0000998 | Hypertrichosis |
HP:0000510 | Rod-cone dystrophy |
HP:0001976 | Reduced antithrombin III activity |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024