Details of Disease

General Information of Disease (ID: DISPGOCN)

Disease Name Intellectual disability, FRA12A type
Synonyms mental retardation, FRA12A type; intellectual disability, FRA12A type
Disease Hierarchy
DISYKSRF: Genetic disease
DISPGOCN: Intellectual disability, FRA12A type
Disease Identifiers
MONDO ID
MONDO_0007634
MESH ID
C566980
UMLS CUI
C1969893
OMIM ID
136630
MedGen ID
369613

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
DIP2B OTP6KH82 Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.