Details of Disease

General Information of Disease (ID: DIS5E882)

Disease Name Atelis syndrome 1
Disease Hierarchy
DIS9GX5N: Atelis syndrome
DIS5QTMU: Mosaic variegated aneuploidy syndrome
DIS5E882: Atelis syndrome 1
Disease Identifiers
MONDO ID
MONDO_0859575
UMLS CUI
C5774281
OMIM ID
620184
MedGen ID
1824054

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
SLF2 OTP8V0HC Moderate Autosomal recessive [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.