UniProt ID | Protein Name | Source |
---|---|---|
Q13093 | Platelet-activating factor acetylhydrolase | |
Q14118 | Dystroglycan 1 | |
Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
Q29983 | MHC class I polypeptide-related sequence A | |
Q6ZVN8 | Hemojuvelin | |
Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
Q9UKY4 | Protein O-mannosyl-transferase 2 | |
Q9Y259 | Choline/ethanolamine kinase |
HPO ID | HPO Term |
---|---|
HP:0000407 | Sensorineural hearing impairment |
HP:0000969 | Edema |
HP:0001635 | Congestive heart failure |
HP:0001644 | Dilated cardiomyopathy |
HP:0001727 | Thromboembolic stroke |
HP:0002875 | Exertional dyspnea |
HP:0003198 | Myopathy |
HP:0003457 | EMG abnormality |
HP:0011675 | Arrhythmia |
HP:0012378 | Fatigue |
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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