Details of Disease | DrugMAP

General Information of Disease (ID: DIS322TS)

Disease Name	Diabetes mellitus, permanent neonatal 3
Synonyms	diabetes mellitus, permanent neonatal 3; Developmental Delay, Epilepsy, and Neonatal Diabetes 2; PNDM3; diabetes mellitus, permanent neonatal 3, with or without neurologic features; DIABETES MELLITUS, PERMANENT NEONATAL 3
Disease Hierarchy	DIS5AEXS: Permanent neonatal diabetes mellitus DIS322TS: Diabetes mellitus, permanent neonatal 3
Disease Identifiers	MONDO ID MONDO_0030088 UMLS CUI C5394303 OMIM ID 618857 MedGen ID 1717271

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
ABCC8	DTI58LU	Definitive	Semidominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC8	OTCWQ54I	Definitive	Semidominant	[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.