Details of Disease | DrugMAP

General Information of Disease (ID: DISMG202)

Disease Name	Intellectual disability, X-linked 41
Synonyms	mental retardation, X-linked 41; intellectual disability, X-linked 48; MRX41; mental retardation, X-linked 48; non-syndromic X-linked intellectual disability caused by mutation in GDI1; GDI1 non-syndromic X-linked intellectual disability; intellectual disability, X-linked type 41; mental retardation, X-linked type 41; intellectual disability, X-linked 41; intellectual developmental disorder, X-linked 41, X-linked dominant
Definition	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.
Disease Hierarchy	DIS71AI3: Non-syndromic X-linked intellectual disability DISMG202: Intellectual disability, X-linked 41
Disease Identifiers	MONDO ID MONDO_0010451 UMLS CUI C3887939 OMIM ID 300849 MedGen ID 854647

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

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

1	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.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.