Details of Disease | DrugMAP

General Information of Disease (ID: DISVT4UQ)

Disease Name	Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
Disease Hierarchy	DISYKSRF: Genetic disease DISVT4UQ: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
Disease Identifiers	MONDO ID MONDO_0859229 UMLS CUI C5676924 OMIM ID 619761 MedGen ID 1808634

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
PRDM13	OTUNAFQW	Limited	Unknown	[1]
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References

1	De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145.