Details of Disease | DrugMAP

General Information of Disease (ID: DIS7K6CD)

Disease Name	Li-Campeau syndrome
Synonyms	LICAS
Disease Hierarchy	DISYKSRF: Genetic disease DIS7K6CD: Li-Campeau syndrome
Disease Identifiers	MONDO ID MONDO_0030963 UMLS CUI C5543068 OMIM ID 619189 MedGen ID 1788485

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
UBR7	OTHFD7J1	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 Jan 7;108(1):134-147. doi: 10.1016/j.ajhg.2020.11.018. Epub 2020 Dec 18.