General Information of Disease (ID: DISK88G8)

Disease Name Knobloch syndrome 2
Disease Hierarchy
DIS20FJI: Knobloch syndrome
DISK88G8: Knobloch syndrome 2
Disease Identifiers
MONDO ID
MONDO_0100119
UMLS CUI
C5676897
OMIM ID
618458
MedGen ID
1812153

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PAK2 TT279WO Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PAK2 OTLUNCIH Limited Unknown [1]
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References

1 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25.