dilated cardiomyopathy 1C

Summary
Synonym
  • CMDC1
  • dilated cardiomyopathy 1C with or without left ventricular noncompaction
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.
Super Class
autosomal dominant disease dilated cardiomyopathy
Disease Ontology
DOID:0110423
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11155 LDB3 LIM domain binding 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
24131 Ldb3 LIM domain binding 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
36740 Zasp52 Z band alternatively spliced PDZ-motif protein 52
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0001644 Dilated cardiomyopathy
HP:0003457 EMG abnormality
HP:0000969 Edema
HP:0012378 Fatigue
HP:0002875 Exertional dyspnea
HP:0000407 Sensorineural hearing impairment
HP:0011675 Arrhythmia
HP:0001727 Thromboembolic stroke
HP:0012764 Orthopnea
HP:0001635 Congestive heart failure
Displaying all 4 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
70 ACTC1 actin alpha cardiac muscle 1

About Release Notes Help Feedback

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024