Details of Disease

General Information of Disease (ID: DISJKFGG)

Disease Name Intellectual disability, autosomal dominant 52
Synonyms mental retardation, autosomal dominant 52; autosomal dominant intellectual disability 52; MRD52; autosomal dominant mental retardation 52; intellectual disability, autosomal dominant 52
Disease Hierarchy
DISD6L06: Autosomal dominant non-syndromic intellectual disability
DISJKFGG: Intellectual disability, autosomal dominant 52
Disease Identifiers
MONDO ID
MONDO_0030918
UMLS CUI
C4540478
OMIM ID
617796
MedGen ID
1615839

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
ASH1L OTUT5NLJ Strong Autosomal dominant [1]
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References

1 De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316.