Details of Disease | DrugMAP

General Information of Disease (ID: DIS23Y9N)

Disease Name	Usmani-Riazuddin syndrome, autosomal recessive
Disease Hierarchy	DISYKSRF: Genetic disease DIS23Y9N: Usmani-Riazuddin syndrome, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0859196 UMLS CUI C5561994 OMIM ID 619548 MedGen ID 1794204

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
AP1G1	OTEO6Y9H	Strong	Autosomal recessive	[1]
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References

1	De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7.