Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
43 | ACHE | acetylcholinesterase (Yt blood group) | |
142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
176 | ACAN | aggrecan | |
178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
239 | ALOX12 | arachidonate 12-lipoxygenase, 12S type | |
250 | ALPP | alkaline phosphatase, placental | |
353 | APRT | adenine phosphoribosyltransferase | |
501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
960 | CD44 | CD44 molecule (IN blood group) | |
1119 | CHKA | choline kinase alpha |
UniProt ID | Protein Name | Source |
---|---|---|
O75072 | Ribitol-5-phosphate transferase FKTN | |
O95461 | Xylosyl- and glucuronyltransferase LARGE1 | |
P05187 | Alkaline phosphatase, placental type | |
P06733 | Alpha-enolase | |
P07585 | Decorin | |
P07741 | Adenine phosphoribosyltransferase | |
P09874 | Poly [ADP-ribose] polymerase 1 | |
P10253 | Lysosomal alpha-glucosidase | |
P11217 | Glycogen phosphorylase, muscle form | |
P11226 | Mannose-binding protein C |
HPO ID | HPO Term |
---|---|
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0002027 | Abdominal pain |
HP:0003687 | Centrally nucleated skeletal muscle fibers |
HP:0001249 | Intellectual disability |
HP:0003391 | Gowers sign |
HP:0003803 | Type 1 muscle fiber predominance |
HP:0002515 | Waddling gait |
HP:0000729 | Autistic behavior |
HP:0003325 | Limb-girdle muscle weakness |
HP:0003701 | Proximal muscle weakness |
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
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024