Details of Disease

General Information of Disease (ID: DIS0F3KX)

Disease Name Shukla-Vernon syndrome
Synonyms SHUVER; SHUKLA-VERNON SYNDROME; Shukla-Vernon syndrome, X-linked recessive
Disease Hierarchy
DISYKSRF: Genetic disease
DIS0F3KX: Shukla-Vernon syndrome
Disease Identifiers
MONDO ID
MONDO_0026727
UMLS CUI
C5193146
OMIM ID
301029
MedGen ID
1674076

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
BCORL1 OTPTFQN5 Strong X-linked [1]
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References

1 Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. Am J Med Genet A. 2019 May;179(5):870-874. doi: 10.1002/ajmg.a.61118. Epub 2019 Apr 2.