General Information of Disease (ID: DIS6DJ2Y)

Disease Name Meester-Loeys syndrome
Synonyms Meester-Loeys syndrome; Meester-Loeys syndrome; MRLS; MRLS
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DIS6DJ2Y: Meester-Loeys syndrome
Disease Identifiers
MONDO ID
MONDO_0010515
UMLS CUI
C4310811
OMIM ID
300989
MedGen ID
934778

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BGN TT0JPVF Strong X-linked [1]
BGN TT0JPVF Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BGN OT3AV6IF Strong X-linked [1]
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References

1 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.
2 Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Genet Med. 2017 Apr;19(4):386-395. doi: 10.1038/gim.2016.126. Epub 2016 Sep 15.