Details of Disease

General Information of Disease (ID: DISARDLU)

Disease Name Ververi-Brady syndrome
Synonyms VERBRAS; Ververi-Brady syndrome
Disease Hierarchy
DISH7SDF: Syndromic intellectual disability
DISD715V: Hereditary neurological disease
DISARDLU: Ververi-Brady syndrome
Disease Identifiers
MONDO ID
MONDO_0060707
UMLS CUI
C4693824
OMIM ID
617982
MedGen ID
1647785
Orphanet ID
580940
SNOMED CT ID
1220568003

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
QRICH1 OTPVAX04 Definitive 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.