Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1605 | DAG1 | dystroglycan 1 | |
2218 | FKTN | fukutin | |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
10585 | POMT1 | protein O-mannosyltransferase 1 | |
10678 | B3GNT2 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | |
11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
29954 | POMT2 | protein O-mannosyltransferase 2 | |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
UniProt ID | Protein Name | Source |
---|---|---|
Q9UKY4 | Protein O-mannosyl-transferase 2 | |
Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
Q9Y6A1 | Protein O-mannosyl-transferase 1 |
HPO ID | HPO Term |
---|---|
HP:0007957 | Corneal opacity |
HP:0007973 | Retinal dysplasia |
HP:0008736 | Hypoplasia of penis |
HP:0010508 | Metatarsus valgus |
HP:0012400 | Abnormal circulating aldolase concentration |
HP:0000007 | Autosomal recessive inheritance |
HP:0000050 | Hypoplastic male external genitalia |
HP:0000110 | Renal dysplasia |
HP:0000204 | Cleft upper lip |
HP:0000298 | Mask-like facies |
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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