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Standards Ontologies Notations
dilated cardiomyopathy 1B

Summary
Definition
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13.
Super Class
autosomal dominant disease dilated cardiomyopathy
External Links
Disease Ontology
DOID:0110443
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 41 - 42 of 42 in total
Gene ID Gene Symbol Description Source
148738 HJV hemojuvelin BMP co-receptor
100507436 MICA MHC class I polypeptide-related sequence A
Displaying 1 entry
Gene ID Gene Symbol Description Source
246179 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
362520 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
100006345 fktn fukutin
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
495324 fktn.S fukutin S homeolog Xenopus laevis (African clawed frog)
100124956 fktn fukutin Xenopus tropicalis (tropical clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
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
Displaying all 3 entries
Gene ID Gene Symbol Description
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
2218 FKTN fukutin
22845 DOLK dolichol kinase
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

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