Details of Disease | DrugMAP

General Information of Disease (ID: DISJ4JUS)

Disease Name	Orofaciodigital syndrome 19
Disease Hierarchy	DISSB296: Orofaciodigital syndrome DISJ4JUS: Orofaciodigital syndrome 19
Disease Identifiers	MONDO ID MONDO_0859310 UMLS CUI C5774248 OMIM ID 620107 MedGen ID 1824021

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
SCNM1	OT505E7T	Strong	Autosomal recessive	[1]
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References

1	Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia. Am J Hum Genet. 2022 Oct 6;109(10):1828-1849. doi: 10.1016/j.ajhg.2022.08.009. Epub 2022 Sep 8.