Details of Disease | DrugMAP

General Information of Disease (ID: DIS5VM21)

Disease Name	Epilepsy, idiopathic generalized, susceptibility to, 14
Synonyms	epilepsy, idiopathic generalized, susceptibility to, 14; susceptibility to idiopathic generalized epilepsy 14; epilepsy, idiopathic generalized, susceptibility to, type 14; EIG14; epilepsy, idiopathic generalized, susceptibility to, 14; EIG14; susceptibility to idiopathic generalised epilepsy 14
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DIS5VM21: Epilepsy, idiopathic generalized, susceptibility to, 14
Disease Identifiers	MONDO ID MONDO_0014734 UMLS CUI C4225245 OMIM ID 616685 MedGen ID 903934

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC12A5	TTH6UZY	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC12A5	DTD62VB	Limited	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC12A5	OTBA2M8Y	Limited	Autosomal dominant	[2]
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References

1	Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.Sci Rep. 2016 Jul 20;6:30072. doi: 10.1038/srep30072.
2	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.