Details of Disease | DrugMAP

General Information of Disease (ID: DISY7ARC)

Disease Name	Zimmermann-laband syndrome 3
Synonyms	ZIMMERMANN-LABAND SYNDROME 3; ZLS3
Disease Hierarchy	DISXXVYH: Zimmermann-Laband syndrome DISY7ARC: Zimmermann-laband syndrome 3
Disease Identifiers	MONDO ID MONDO_0032854 UMLS CUI C5231447 OMIM ID 618658 MedGen ID 1684740

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
KCNN3	TT9JH25	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
KCNN3	OT11KYA8	Strong	Autosomal dominant	[1]
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References

1	Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca(2+)-Activated K(+) Channel SK3 Cause Zimmermann-Laband Syndrome. Am J Hum Genet. 2019 Jun 6;104(6):1139-1157. doi: 10.1016/j.ajhg.2019.04.012. Epub 2019 May 30.