Details of Disease | DrugMAP

General Information of Disease (ID: DISVYHF3)

Disease Name	Warburg micro syndrome 2
Synonyms	WARBURG micro syndrome 2; micro syndrome 2; WARBM2; Warburg micro syndrome type 2; Warburg micro syndrome caused by mutation in RAB3GAP2; RAB3GAP2 Warburg micro syndrome; Warburg micro syndrome 2
Definition	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.
Disease Hierarchy	DISSEZ2V: Warburg micro syndrome DISVYHF3: Warburg micro syndrome 2
Disease Identifiers	MONDO ID MONDO_0013641 UMLS CUI C3280214 OMIM ID 614225 MedGen ID 481844

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
RAB3GAP2	OTQTE0GI	Strong	Autosomal recessive	[1]
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References

1	Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet. 2006 Apr;78(4):702-7. doi: 10.1086/502681. Epub 2006 Feb 14.