Details of Disease | DrugMAP

General Information of Disease (ID: DISTYAGN)

Disease Name	Muscular dystrophy, limb-girdle, autosomal recessive 27
Synonyms	LGMDR27
Disease Hierarchy	DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy DISTYAGN: Muscular dystrophy, limb-girdle, autosomal recessive 27
Disease Identifiers	MONDO ID MONDO_0030456 UMLS CUI C5562002 OMIM ID 619566 MedGen ID 1794212

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
JAG2	TTOJY1B	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
JAG2	OTH7KRRF	Strong	Autosomal recessive	[1]
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References

1	A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15.