Details of Disease | DrugMAP

General Information of Disease (ID: DISRGXGU)

Disease Name	Sweeney-Cox syndrome
Synonyms	SWCOS; Sweeney-Cox syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISRGXGU: Sweeney-Cox syndrome
Disease Identifiers	MONDO ID MONDO_0060592 UMLS CUI C4540299 OMIM ID 617746 MedGen ID 1625659

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TWIST1	OTB3H60O	Limited	Autosomal dominant	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TWIST1	TTX1MY7	Limited	Autosomal dominant	[1]
TWIST1	TTX1MY7	moderate	Biomarker	[2]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.Am J Med Genet A. 2018 Dec;176(12):2777-2780. doi: 10.1002/ajmg.a.40525. Epub 2018 Nov 18.