Details of Disease | DrugMAP

General Information of Disease (ID: DIS23EW8)

Disease Name	Waardenburg syndrome, IIa 2F
Synonyms	WS2F; Waardenburg syndrome, IIa 2F
Disease Hierarchy	DISRU41A: Waardenburg syndrome DIS23EW8: Waardenburg syndrome, IIa 2F
Disease Identifiers	MONDO ID MONDO_0030983 UMLS CUI C5677013 OMIM ID 619947 MedGen ID 1809587

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
KITLG	TTDJ51N	Limited	Unknown	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KITLG	OTB9AVQ4	Limited	Unknown	[1]
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References

1	Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.