Details of Disease | DrugMAP

General Information of Disease (ID: DIS1V1OE)

Disease Name	Anencephaly 2
Synonyms	ANPH2; anencephaly 2
Disease Hierarchy	DISIYW6T: Anencephaly DIS1V1OE: Anencephaly 2
Disease Identifiers	MONDO ID MONDO_0030338 UMLS CUI C5561945 OMIM ID 619452 MedGen ID 1794155

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
NUAK2	TTHVOTQ	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NUAK2	OTUEZLO8	Limited	Autosomal recessive	[1]
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References

1	A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling. J Exp Med. 2020 Dec 7;217(12):e20191561. doi: 10.1084/jem.20191561.