Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
31 | ACACA | acetyl-CoA carboxylase alpha | |
43 | ACHE | acetylcholinesterase (Yt blood group) | |
217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
952 | CD38 | CD38 molecule | |
1119 | CHKA | choline kinase alpha | |
1120 | CHKB | choline kinase beta | |
1272 | CNTN1 | contactin 1 | |
2218 | FKTN | fukutin | |
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
3098 | HK1 | hexokinase 1 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0001250 | Seizure |
HP:0003677 | Slowly progressive |
HP:0001644 | Dilated cardiomyopathy |
HP:0010628 | Facial palsy |
HP:0001290 | Generalized hypotonia |
HP:0003560 | Muscular dystrophy |
HP:0000750 | Delayed speech and language development |
HP:0002515 | Waddling gait |
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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