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:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
HP:0001263 | Global developmental delay |
HP:0100543 | Cognitive impairment |
HP:0000639 | Nystagmus |
HP:0007340 | Lower limb muscle weakness |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0000467 | Neck muscle weakness |
HP:0003551 | Difficulty climbing stairs |
HP:0001638 | Cardiomyopathy |
HP:0008997 | Proximal muscle weakness in upper limbs |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024