Details of Disease | DrugMAP

General Information of Disease (ID: DISY6886)

Disease Name	Maturity-onset diabetes of the young type 14
Synonyms	maturity-onset diabetes of the young, type 14; MODY14; maturity-onset diabetes of the young (disease) caused by mutation in APPL1; APPL1 maturity-onset diabetes of the young (disease)
Definition	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.
Disease Hierarchy	DISG75M5: Maturity-onset diabetes of the young DISY6886: Maturity-onset diabetes of the young type 14
Disease Identifiers	MONDO ID MONDO_0014674 UMLS CUI C4225299 OMIM ID 616511 MedGen ID 908119

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APPL1	OT8VR95S	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.