Details of Disease | DrugMAP

General Information of Disease (ID: DISKT87Z)

Disease Name	Intellectual developmental disorder, autosomal recessive 79
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISKT87Z: Intellectual developmental disorder, autosomal recessive 79
Disease Identifiers	MONDO ID MONDO_0957288 UMLS CUI C5830553 OMIM ID 620393 MedGen ID 1841189

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
TPR	OTUBBA4W	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

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.