Details of Disease | DrugMAP

General Information of Disease (ID: DIS1QZO7)

Disease Name	Intellectual disability, X-linked 95
Synonyms	mental retardation, X-linked 95; intellectual disability, X-linked 95; MRX95; mental retardation, X-linked 95, X-linked dominant
Disease Hierarchy	DIS71AI3: Non-syndromic X-linked intellectual disability DIS1QZO7: Intellectual disability, X-linked 95
Disease Identifiers	MONDO ID MONDO_0010413 MESH ID C567470 UMLS CUI C2678034 OMIM ID 300716 MedGen ID 394715

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
MAGT1	DTKLJT4	Limited	X-linked recessive	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAGT1	OTQSAV5C	Limited	X-linked recessive	[1]
DLG3	OTH591WK	Strong	Biomarker	[2]
GDI1	OTYM3928	Strong	Biomarker	[3]
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References

1	Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet. 2008 May;82(5):1150-7. doi: 10.1016/j.ajhg.2008.03.021. Epub 2008 May 1.
2	Altered thalamocortical development in the SAP102 knockout model of intellectual disability.Hum Mol Genet. 2016 Sep 15;25(18):4052-4061. doi: 10.1093/hmg/ddw244. Epub 2016 Jul 27.
3	Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.Hum Mol Genet. 2009 Jan 1;18(1):105-17. doi: 10.1093/hmg/ddn321. Epub 2008 Oct 1.