Details of Disease | DrugMAP

General Information of Disease (ID: DISD7U9U)

Disease Name	Vissers-Bodmer syndrome
Synonyms	VIBOS
Disease Hierarchy	DISYKSRF: Genetic disease DISD7U9U: Vissers-Bodmer syndrome
Disease Identifiers	MONDO ID MONDO_0033618 UMLS CUI C5436647 OMIM ID 619033 MedGen ID 1776566

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
CNOT1	OTTEU05F	Strong	Autosomal dominant	[1]
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References

1	De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17.