General Information of Disease (ID: DIS606L5)

Disease Name Menke-Hennekam syndrome 1
Synonyms MKHK1; Menke-Hennekam syndrome 1
Disease Hierarchy
DIS1AQHM: Menke-Hennekam syndrome
DIS606L5: Menke-Hennekam syndrome 1
Disease Identifiers
MONDO ID
MONDO_0020763
UMLS CUI
C5193034
OMIM ID
618332
MedGen ID
1675629

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
CREBBP TTFRCTK Strong Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CREBBP OTPA4QGM Strong 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.