Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
27306 | HPGDS | hematopoietic prostaglandin D synthase | |
29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
29954 | POMT2 | protein O-mannosyltransferase 2 | |
51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
55750 | AGK | acylglycerol kinase | |
56983 | POGLUT1 | protein O-glucosyltransferase 1 | |
79147 | FKRP | fukutin related protein | |
84197 | POMK | protein O-mannose kinase |
HPO ID | HPO Term |
---|---|
HP:0002515 | Waddling gait |
HP:0009046 | Difficulty running |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0001644 | Dilated cardiomyopathy |
HP:0003701 | Proximal muscle weakness |
HP:0003394 | Muscle spasm |
HP:0005162 | Abnormal left ventricular function |
HP:0001771 | Achilles tendon contracture |
HP:0002948 | Vertebral fusion |
HP:0000158 | Macroglossia |
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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