Details of Disease | DrugMAP

General Information of Disease (ID: DISAMEIF)

Disease Name	Radioulnar synostosis, nonsyndromic, susceptibility to
Definition	A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DISAMEIF: Radioulnar synostosis, nonsyndromic, susceptibility to
Disease Identifiers	MONDO ID MONDO_0100183 UMLS CUI C5241445 OMIM ID 179300 MedGen ID 1712799

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
SMAD6	TTON5JB	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMAD6	OTUZZWUD	Strong	Autosomal dominant	[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.