Details of Disease | DrugMAP

General Information of Disease (ID: DISN6PZR)

Disease Name	Maturity-onset diabetes of the young type 13
Synonyms	MODY, type 13; maturity-onset diabetes of the young, type 13; KCNJ11 maturity-onset diabetes of the young (disease); MODY13; MODY type 13; maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11
Definition	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.
Disease Hierarchy	DISG75M5: Maturity-onset diabetes of the young DISN6PZR: Maturity-onset diabetes of the young type 13
Disease Identifiers	MONDO ID MONDO_0014589 UMLS CUI C4225365 OMIM ID 616329 MedGen ID 897640

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
KCNJ11	TT329V4	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNJ11	DTGZICY	Strong	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
KCNJ11	OTPUUELV	Strong	Autosomal dominant	[2]
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References

1	Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.Stem Cell Res. 2017 Aug;23:178-181. doi: 10.1016/j.scr.2017.07.023. Epub 2017 Jul 25.
2	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.