dilated cardiomyopathy 1A

Summary
Synonym
  • CDCD1
  • dilated cardiomyopathy with conduction defect 1
  • familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
Super Class
autosomal dominant disease dilated cardiomyopathy
External Links
Disease Ontology
DOID:0110425
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 74 in total
Gene ID Gene Symbol Description Source
2632 GBE1 1,4-alpha-glucan branching enzyme 1
2876 GPX1 glutathione peroxidase 1
2878 GPX3 glutathione peroxidase 3
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
3294 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3958 LGALS3 galectin 3
4065 LY75 lymphocyte antigen 75
4153 MBL2 mannose binding lectin 2
4190 MDH1 malate dehydrogenase 1
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