Details of Disease | DrugMAP

General Information of Disease (ID: DIS1UWBG)

Disease Name	Alkuraya-Kucinskas syndrome
Synonyms	ALKKUCS; Alkuraya-Kucinskas syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS1UWBG: Alkuraya-Kucinskas syndrome
Disease Identifiers	MONDO ID MONDO_0060631 UMLS CUI C4693347 OMIM ID 617822 MedGen ID 1634304 Orphanet ID 610569

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
BLTP1	OTGK09CX	Strong	Autosomal recessive	[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.