Details of Disease

General Information of Disease (ID: DISXDTM9)

Disease Name Chopra-Amiel-Gordon syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISXDTM9: Chopra-Amiel-Gordon syndrome
Disease Identifiers
MONDO ID
MONDO_0859186
UMLS CUI
C5561975
OMIM ID
619504
MedGen ID
1794185

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
ANKRD17 OTQ3DYEP Strong Autosomal dominant [1]
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References

1 The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.