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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 1 - 10 of 42 in total
Gene ID Gene Symbol Description Source
37 ACADVL acyl-CoA dehydrogenase very long chain
622 BDH1 3-hydroxybutyrate dehydrogenase 1
1120 CHKB choline kinase beta
1376 CPT2 carnitine palmitoyltransferase 2
1605 DAG1 dystroglycan 1
1636 ACE angiotensin I converting enzyme
2194 FASN fatty acid synthase
2218 FKTN fukutin
2720 GLB1 galactosidase beta 1
2876 GPX1 glutathione peroxidase 1
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 11 - 12 of 12 in total
HPO ID HPO Term
HP:0012764 Orthopnea
HP:0100578 Lipoatrophy
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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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