Details of Disease | DrugMAP

General Information of Disease (ID: DISG0RDO)

Disease Name	Intellectual disability, autosomal recessive 64
Synonyms	MENTAL RETARDATION, autosomal recessive 64; MRT64
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISG0RDO: Intellectual disability, autosomal recessive 64
Disease Identifiers	MONDO ID MONDO_0020846 UMLS CUI C4748192 OMIM ID 618103 MedGen ID 1648279

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LINGO1	TTZYQ80	Limited	Autosomal recessive	[1]
LINGO1	TTZYQ80	moderate	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LINGO1	OTDCBTBS	Limited	Autosomal recessive	[1]
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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.
2	Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.Genet Med. 2018 Jul;20(7):778-784. doi: 10.1038/gim.2017.113. Epub 2017 Aug 24.