HPO ID | HPO Term |
---|---|
HP:0002938 | Lumbar hyperlordosis |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003325 | Limb-girdle muscle weakness |
HP:0003327 | Axial muscle weakness |
HP:0003549 | Abnormality of connective tissue |
HP:0003560 | Muscular dystrophy |
HP:0003701 | Proximal muscle weakness |
HP:0003707 | Calf muscle pseudohypertrophy |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0004637 | Decreased cervical spine mobility |
Gene ID | Gene Symbol | Description |
---|---|---|
10585 | POMT1 | protein O-mannosyltransferase 1 |
29925 | GMPPB | GDP-mannose pyrophosphorylase B |
29954 | POMT2 | protein O-mannosyltransferase 2 |
79147 | FKRP | fukutin related protein |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
84197 | POMK | protein O-mannose kinase |
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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