Details of Disease | DrugMAP

General Information of Disease (ID: DISVS76K)

Disease Name	Delpire-McNeill syndrome
Synonyms	DELMNES
Disease Hierarchy	DISYKSRF: Genetic disease DISVS76K: Delpire-McNeill syndrome
Disease Identifiers	MONDO ID MONDO_0033667 UMLS CUI C5436771 OMIM ID 619083 MedGen ID 1725056

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
SLC12A2	DTHKL3Q	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC12A2	OT3ZJ3LH	Strong	Autosomal dominant	[1]
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References

1	Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. Neuromolecular Med. 2016 Mar;18(1):69-80. doi: 10.1007/s12017-015-8378-2. Epub 2015 Nov 4.