Details of Disease | DrugMAP

General Information of Disease (ID: DISTGFQ7)

Disease Name	Diabetes mellitus, permanent neonatal 2
Synonyms	Developmental Delay, Epilepsy, and Neonatal Diabetes 1; diabetes, permanent neonatal 2, with or without neurologic features; PNDM2; DIABETES MELLITUS, PERMANENT NEONATAL 2; diabetes mellitus, permanent neonatal 2
Disease Hierarchy	DIS5AEXS: Permanent neonatal diabetes mellitus DISTGFQ7: Diabetes mellitus, permanent neonatal 2
Disease Identifiers	MONDO ID MONDO_0030087 UMLS CUI C5394296 OMIM ID 618856 MedGen ID 1713823

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
KCNJ11	DTGZICY	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
KCNJ11	OTPUUELV	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.