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Standards Ontologies Notations
myofibrillar myopathy 4

Summary
Synonym
  • zaspopathy
Definition
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.
Super Class
autosomal dominant disease myofibrillar myopathy
Disease Ontology
DOID:0080095
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
9260 PDLIM7 PDZ and LIM domain 7
10611 PDLIM5 PDZ and LIM domain 5
11155 LDB3 LIM domain binding 3
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24131 Ldb3 LIM domain binding 3
56376 Pdlim5 PDZ and LIM domain 5
67399 Pdlim7 PDZ and LIM domain 7
Displaying all 2 entries
Gene ID Gene Symbol Description Source
64353 Pdlim5 PDZ and LIM domain 5
286908 Pdlim7 PDZ and LIM domain 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
36740 Zasp52 Z band alternatively spliced PDZ-motif protein 52
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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: December 9, 2024