Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
54576 | UGT1A8 | UDP glucuronosyltransferase family 1 member A8 | |
54577 | UGT1A7 | UDP glucuronosyltransferase family 1 member A7 | |
54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 | |
54579 | UGT1A5 | UDP glucuronosyltransferase family 1 member A5 | |
54600 | UGT1A9 | UDP glucuronosyltransferase family 1 member A9 | |
54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
54659 | UGT1A3 | UDP glucuronosyltransferase family 1 member A3 | |
57104 | PNPLA2 | patatin like phospholipase domain containing 2 |
UniProt ID | Protein Name | Source |
---|---|---|
P22310 | UDP-glucuronosyltransferase 1A4 | |
P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
P27797 | Calreticulin | |
P35475 | Alpha-L-iduronidase | |
P35503 | UDP-glucuronosyltransferase 1A3 | |
P35504 | UDP-glucuronosyltransferase 1A5 | |
P35573 | Glycogen debranching enzyme | |
P35575 | Glucose-6-phosphatase catalytic subunit 1 | |
P46976 | Glycogenin-1 | |
P54803 | Galactocerebrosidase |
HPO ID | HPO Term |
---|---|
HP:0002747 | Respiratory insufficiency due to muscle weakness |
HP:0001324 | Muscle weakness |
HP:0008947 | Infantile muscular hypotonia |
HP:0000365 | Hearing impairment |
HP:0003701 | Proximal muscle weakness |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
HP:0001712 | Left ventricular hypertrophy |
HP:0000183 | Difficulty in tongue movements |
HP:0002098 | Respiratory distress |
HP:0005165 | Shortened PR interval |
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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