Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
175 | AGA | aspartylglucosaminidase | |
410 | ARSA | arylsulfatase A | |
411 | ARSB | arylsulfatase B | |
427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
1118 | CHIT1 | chitinase 1 | |
1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
1636 | ACE | angiotensin I converting enzyme | |
2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
2539 | G6PD | glucose-6-phosphate dehydrogenase | |
2548 | GAA | alpha glucosidase |
UniProt ID | Protein Name | Source |
---|---|---|
O00462 | Beta-mannosidase | |
O00767 | Stearoyl-CoA desaturase | |
O43451 | Maltase-glucoamylase | |
O60502 | Protein O-GlcNAcase | |
O95864 | Acyl-CoA 6-desaturase | |
P04062 | Lysosomal acid glucosylceramidase | |
P05362 | Intercellular adhesion molecule 1 | |
P06280 | Alpha-galactosidase A | |
P06858 | Lipoprotein lipase | |
P07911 | Uromodulin |
HPO ID | HPO Term |
---|---|
HP:0000083 | Renal insufficiency |
HP:0000091 | Abnormal renal tubule morphology |
HP:0000093 | Proteinuria |
HP:0000100 | Nephrotic syndrome |
HP:0000112 | Nephropathy |
HP:0000179 | Thick lower lip vermilion |
HP:0000280 | Coarse facial features |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000518 | Cataract |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024