Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
10585 | POMT1 | protein O-mannosyltransferase 1 | |
26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
29954 | POMT2 | protein O-mannosyltransferase 2 | |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
79147 | FKRP | fukutin related protein |
UniProt ID | Protein Name | Source |
---|---|---|
Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
Q9UKY4 | Protein O-mannosyl-transferase 2 | |
Q9Y6A1 | Protein O-mannosyl-transferase 1 |
HPO ID | HPO Term |
---|---|
HP:0000603 | Central scotoma |
HP:0012511 | Temporal optic disc pallor |
HP:0000541 | Retinal detachment |
HP:0007906 | Ocular hypertension |
HP:0000505 | Visual impairment |
HP:0011003 | High myopia |
HP:0000587 | Abnormal optic nerve morphology |
HP:0012796 | Increased cup-to-disc ratio |
HP:0001138 | Optic neuropathy |
HP:0000501 | Glaucoma |
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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