Details of Disease

General Information of Disease (ID: DIS0BVHE)

Disease Name Obsolete overgrowth-macrocephaly-facial dysmorphism syndrome
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DIS0BVHE: Obsolete overgrowth-macrocephaly-facial dysmorphism syndrome

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
RNF135 OT18NH5N Supportive Autosomal dominant [1]
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References

1 Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet. 2007 Aug;39(8):963-5. doi: 10.1038/ng2083. Epub 2007 Jul 15.