Details of Disease | DrugMAP

General Information of Disease (ID: DIS1VSKB)

Disease Name	Intellectual disability, autosomal recessive 65
Synonyms	intellectual disability, autosomal recessive 65; MRT65; mental retardation, autosomal recessive 65
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DIS1VSKB: Intellectual disability, autosomal recessive 65
Disease Identifiers	MONDO ID MONDO_0020850 UMLS CUI C4748219 OMIM ID 618109 MedGen ID 1648401

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
KDM5B	TTCLI75	Strong	Autosomal recessive	[1]
KDM5B	TTCLI75	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KDM5B	OT5DL94T	Strong	Autosomal recessive	[1]
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References

1	The histone demethylase Jarid1b ensures faithful mouse development by protecting developmental genes from aberrant H3K4me3. PLoS Genet. 2013 Apr;9(4):e1003461. doi: 10.1371/journal.pgen.1003461. Epub 2013 Apr 18.
2	Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.