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 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0003560 | Muscular dystrophy |
HP:0001270 | Motor delay |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0009060 | Scapular muscle atrophy |
HP:0001762 | Talipes equinovarus |
HP:0003676 | Progressive |
HP:0001252 | Hypotonia |
HP:0003323 | Progressive muscle weakness |
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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