Details of Disease | DrugMAP

General Information of Disease (ID: DIS0ATYV)

Disease Name	Bethlem myopathy 1A
Synonyms	Bethlem myopathy; BTHLM1; myopathy, benign congenital, with contractures; muscular dystrophy, benign congenital; Bethlem myopathy 1
Disease Hierarchy	DISVF5K2: Bethlem myopathy DISF4E3M: Collagen 6-related myopathy DIS0ATYV: Bethlem myopathy 1A

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL6A3	TT5WCAH	Definitive	Semidominant	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL6A1	OTYKSCOB	Strong	Autosomal dominant	[2]
COL6A2	OTQC6PPO	Strong	Autosomal dominant	[2]
COL6A3	OTAS6R6I	Definitive	Semidominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.