Details of Disease

General Information of Disease (ID: DISBWVTW)

• Disease Name: Obsolete cataract-intellectual disability-hypogonadism syndrome
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISBWVTW: Obsolete cataract-intellectual disability-hypogonadism syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAB3GAP1	OT4DQ8F2	Supportive	Autosomal recessive	[1]
RAB3GAP2	OTQTE0GI	Supportive	Autosomal recessive	[1]

References

• [1] Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.